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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

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Title: The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Authors: Merkevicius K; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.; Faculty of Medicine, Clinic of Paediatrics, Institute of Clinical Medicine, Vilnius University, Vilnius 03101, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, Vilnius 10257, Lithuania., Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany., Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany., Ganetzky R; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Feichtinger RG; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Jiang H; Department of Pediatrics, Weifang Maternal and Children Health Hospital, Weifang 261000, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China., Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China., Ebihara T; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany., Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City 266-0007, Japan., Ferrera G; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Ardissone A; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw 04-730, Poland., Wesol-Kucharska D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw 04-730, Poland., Schröder S; CENTOGENE GmbH, Rostock 18055, Germany., Bauer P; CENTOGENE GmbH, Rostock 18055, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, Rostock 18051, Germany.; Department of Pediatrics, Rare Diseases and Metabolic Medicine, Pomeranian Medical University, 171-252 Szczecin, Poland., Bertoli-Avella A; CENTOGENE GmbH, Rostock 18055, Germany., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark., Freisinger P; Klinikum am Steinenberg, Children's Hospital Reutlingen, Reutlingen 72764, Germany., Janssen MCH; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen 6525, The Netherlands., Wagner M; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany., Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alhaddad B; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; Lifera Omics, Riyadh 11452, Saudi Arabia., AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz 8010, Austria., Barca D; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, Bucharest 050474, Romania., Barić I; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Bellusci M; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, Madrid 28041, Spain., Bevot A; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, Tübingen 72016, Germany., Boltshauser E; Department of Neuropediatrics, University Children's Hospital Zurich, Zurich 8008, Switzerland., Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany., Bouchereau J; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France., Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa 16132, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius 03101, Lithuania., Calhoun A; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Casas K; Sanford Health, Medical Genetics, Fargo, North Dakota 58103, USA., Coker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35100, Turkey., Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin D01 XD99, Ireland., De Lonlay P; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, Paris 75015, France., Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Children's Hospital, Heinrich-Heine-University, Düsseldorf 40225, Germany., Falk MJ; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Ferreira AC; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, Lisboa 1169-045, Portugal., Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Ficicioglu C; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Gokçay GF; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul 34390, Turkey., Häberle J; Division of Metabolism & Children's Research Center, University Children's Hospital, Zürich 8032, Switzerland., Heath O; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Hellenschmidt A; Department for Pediatrics, Klinikum Karlsruhe, Karlsruhe 76133, Germany., Hoefele J; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, Munich 80336, Germany., Hoffmann GF; Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, University Hospital Heidelberg, Heidelberg 69120, Germany., Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Praha, Czech Republic., Huemer M; Department of Paediatrics, LKH Bregenz, Bregenz 6900, Austria.; Division of Metabolism, University Children's Hospital, Zürich 8008, Switzerland., Janeiro P; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, Lisboa 1169-045, Portugal.; Faculdade de Medicina, Universidade de Lisboa, Lisboa 1649-028, Portugal., Karaa A; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA., Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara 06800, Türkiye., Kern I; Department of Pediatrics, Geneva University Hospital, Geneva 1205, Switzerland., Klepper J; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, Aschaffenburg 63739, Germany., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich 80336, Germany.; German Center for Neurodegenerative Diseases (DZNE) Munich, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich 81377, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin D01 XD99, Ireland., Koch J; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Krumina Z; Department of Biology and Microbiology, Riga Stradiņš University, Riga LV-1007, Latvia., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Lebigot E; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre 94270, France., Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China., Maier EM; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, Munich 80337, Germany., Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Mendelsohn B; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest 1085, Hungary., Mundy H; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK., Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels 1200, Belgium., Oliveira A; Medicine Department, Santa Maria University Hospital, Lisbon 1649-028, Portugal., Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Panicucci C; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH 44195, USA., Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria 3052, Australia., Pichard S; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France., Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz 8010, Austria., Ramadža DP; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Repetto GM; Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago 7550000, Chile., Rivera I; Faculdade de Farmácia, iMed.ULisboa-Instituto de Investigação do Medicamento, Universidade de Lisboa, Lisbon 1649-003, Portugal., Rodenburg RJ; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen 6525, The Netherlands., Rossi A; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', Naples 80131, Italy., Schiff M; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France., Seidemann K; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Hannover 30625, Germany., Smith WE; Division of Genetics, MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Portland, ME 04102, USA., Soares S; Neuropediatrics Unit, of the Pediatrics Department, Pedro Hispano Hospital, ULSM, Matosinhos 4464, Portugal., Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Steinbrucker K; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa 16132, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw 01-211, Poland., Tal G; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Tsiakas K; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Kalkan Ucar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35100, Turkey., Hoytema van Konijnenburg E; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht 3584 EA, The Netherlands., Woidy M; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria 3052, Australia., Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey., Zenker M; Institute of Human Genetics, University Hospital, Magdeburg 39120, Germany., Zsidegh P; Bókay Street Department, Pediatric Centre, Semmelweis University, Budapest 1083, Hungary., Westphal D; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, Salzburg 5020, Austria., Sperl W; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria., Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany., Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford OX3 7LE, UK., Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Munich, Munich 80337, Germany., Mayr JA; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, Salzburg 5020, Austria., Wortmann SB; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.
Source: Brain : a journal of neurology [Brain] 2026 Jul 07; Vol. 149 (7), pp. 2344-2362.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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PubTypeId: academicJournal
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Merkevicius+K%22">Merkevicius K</searchLink>; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.; Faculty of Medicine, Clinic of Paediatrics, Institute of Clinical Medicine, Vilnius University, Vilnius 03101, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, Vilnius 10257, Lithuania.<br /><searchLink fieldCode="AU" term="%22Smirnov+D%22">Smirnov D</searchLink>; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Schlieben+LD%22">Schlieben LD</searchLink>; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Ganetzky+R%22">Ganetzky R</searchLink>; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Feichtinger+RG%22">Feichtinger RG</searchLink>; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.<br /><searchLink fieldCode="AU" term="%22Jiang+H%22">Jiang H</searchLink>; Department of Pediatrics, Weifang Maternal and Children Health Hospital, Weifang 261000, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China.<br /><searchLink fieldCode="AU" term="%22Fang+F%22">Fang F</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China.<br /><searchLink fieldCode="AU" term="%22Ebihara+T%22">Ebihara T</searchLink>; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.<br /><searchLink fieldCode="AU" term="%22Murayama+K%22">Murayama K</searchLink>; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City 266-0007, Japan.<br /><searchLink fieldCode="AU" term="%22Ferrera+G%22">Ferrera G</searchLink>; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Ardissone+A%22">Ardissone A</searchLink>; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.<br /><searchLink fieldCode="AU" term="%22Rokicki+D%22">Rokicki D</searchLink>; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw 04-730, Poland.<br /><searchLink fieldCode="AU" term="%22Wesol-Kucharska+D%22">Wesol-Kucharska D</searchLink>; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw 04-730, Poland.<br /><searchLink fieldCode="AU" term="%22Schröder+S%22">Schröder S</searchLink>; CENTOGENE GmbH, Rostock 18055, Germany.<br /><searchLink fieldCode="AU" term="%22Bauer+P%22">Bauer P</searchLink>; CENTOGENE GmbH, Rostock 18055, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, Rostock 18051, Germany.; Department of Pediatrics, Rare Diseases and Metabolic Medicine, Pomeranian Medical University, 171-252 Szczecin, Poland.<br /><searchLink fieldCode="AU" term="%22Bertoli-Avella+A%22">Bertoli-Avella A</searchLink>; CENTOGENE GmbH, Rostock 18055, Germany.<br /><searchLink fieldCode="AU" term="%22Østergaard+E%22">Østergaard E</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark.<br /><searchLink fieldCode="AU" term="%22Freisinger+P%22">Freisinger P</searchLink>; Klinikum am Steinenberg, Children's Hospital Reutlingen, Reutlingen 72764, Germany.<br /><searchLink fieldCode="AU" term="%22Janssen+MCH%22">Janssen MCH</searchLink>; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen 6525, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Abouyousef+O%22">Abouyousef O</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alhaddad+B%22">Alhaddad B</searchLink>; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; Lifera Omics, Riyadh 11452, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22AlAbdi+L%22">AlAbdi L</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alkuraya+F%22">Alkuraya F</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alston+CL%22">Alston CL</searchLink>; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.<br /><searchLink fieldCode="AU" term="%22Baghdasaryan+A%22">Baghdasaryan A</searchLink>; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz 8010, Austria.<br /><searchLink fieldCode="AU" term="%22Barca+D%22">Barca D</searchLink>; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, Bucharest 050474, Romania.<br /><searchLink fieldCode="AU" term="%22Barić+I%22">Barić I</searchLink>; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia.<br /><searchLink fieldCode="AU" term="%22Bellusci+M%22">Bellusci M</searchLink>; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, Madrid 28041, Spain.<br /><searchLink fieldCode="AU" term="%22Bevot+A%22">Bevot A</searchLink>; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, Tübingen 72016, Germany.<br /><searchLink fieldCode="AU" term="%22Boltshauser+E%22">Boltshauser E</searchLink>; Department of Neuropediatrics, University Children's Hospital Zurich, Zurich 8008, Switzerland.<br /><searchLink fieldCode="AU" term="%22Borggraefe+I%22">Borggraefe I</searchLink>; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Bouchereau+J%22">Bouchereau J</searchLink>; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France.<br /><searchLink fieldCode="AU" term="%22Bruno+C%22">Bruno C</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa 16132, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.<br /><searchLink fieldCode="AU" term="%22Burnyte+B%22">Burnyte B</searchLink>; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius 03101, Lithuania.<br /><searchLink fieldCode="AU" term="%22Calhoun+A%22">Calhoun A</searchLink>; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Casas+K%22">Casas K</searchLink>; Sanford Health, Medical Genetics, Fargo, North Dakota 58103, USA.<br /><searchLink fieldCode="AU" term="%22Coker+M%22">Coker M</searchLink>; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35100, Turkey.<br /><searchLink fieldCode="AU" term="%22Crushell+E%22">Crushell E</searchLink>; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin D01 XD99, Ireland.<br /><searchLink fieldCode="AU" term="%22De+Lonlay+P%22">De Lonlay P</searchLink>; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, Paris 75015, France.<br /><searchLink fieldCode="AU" term="%22Dionisi-Vici+C%22">Dionisi-Vici C</searchLink>; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.<br /><searchLink fieldCode="AU" term="%22Distelmaier+F%22">Distelmaier F</searchLink>; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Children's Hospital, Heinrich-Heine-University, Düsseldorf 40225, Germany.<br /><searchLink fieldCode="AU" term="%22Falk+MJ%22">Falk MJ</searchLink>; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Ferreira+AC%22">Ferreira AC</searchLink>; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, Lisboa 1169-045, Portugal.<br /><searchLink fieldCode="AU" term="%22Ferreira+CR%22">Ferreira CR</searchLink>; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Ficicioglu+C%22">Ficicioglu C</searchLink>; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Gokçay+GF%22">Gokçay GF</searchLink>; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul 34390, Turkey.<br /><searchLink fieldCode="AU" term="%22Häberle+J%22">Häberle J</searchLink>; Division of Metabolism & Children's Research Center, University Children's Hospital, Zürich 8032, Switzerland.<br /><searchLink fieldCode="AU" term="%22Heath+O%22">Heath O</searchLink>; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.<br /><searchLink fieldCode="AU" term="%22Hellenschmidt+A%22">Hellenschmidt A</searchLink>; Department for Pediatrics, Klinikum Karlsruhe, Karlsruhe 76133, Germany.<br /><searchLink fieldCode="AU" term="%22Hoefele+J%22">Hoefele J</searchLink>; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, Munich 80336, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffmann+GF%22">Hoffmann GF</searchLink>; Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, University Hospital Heidelberg, Heidelberg 69120, Germany.<br /><searchLink fieldCode="AU" term="%22Honzik+T%22">Honzik T</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Praha, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Huemer+M%22">Huemer M</searchLink>; Department of Paediatrics, LKH Bregenz, Bregenz 6900, Austria.; Division of Metabolism, University Children's Hospital, Zürich 8008, Switzerland.<br /><searchLink fieldCode="AU" term="%22Janeiro+P%22">Janeiro P</searchLink>; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, Lisboa 1169-045, Portugal.; Faculdade de Medicina, Universidade de Lisboa, Lisboa 1649-028, Portugal.<br /><searchLink fieldCode="AU" term="%22Karaa+A%22">Karaa A</searchLink>; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Kasapkara+ÇS%22">Kasapkara ÇS</searchLink>; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara 06800, Türkiye.<br /><searchLink fieldCode="AU" term="%22Kern+I%22">Kern I</searchLink>; Department of Pediatrics, Geneva University Hospital, Geneva 1205, Switzerland.<br /><searchLink fieldCode="AU" term="%22Klepper+J%22">Klepper J</searchLink>; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, Aschaffenburg 63739, Germany.<br /><searchLink fieldCode="AU" term="%22Klopstock+T%22">Klopstock T</searchLink>; Department of Neurology, Friedrich-Baur-Institute, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich 80336, Germany.; German Center for Neurodegenerative Diseases (DZNE) Munich, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich 81377, Germany.<br /><searchLink fieldCode="AU" term="%22Knerr+I%22">Knerr I</searchLink>; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin D01 XD99, Ireland.<br /><searchLink fieldCode="AU" term="%22Koch+J%22">Koch J</searchLink>; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.<br /><searchLink fieldCode="AU" term="%22Krumina+Z%22">Krumina Z</searchLink>; Department of Biology and Microbiology, Riga Stradiņš University, Riga LV-1007, Latvia.<br /><searchLink fieldCode="AU" term="%22Lamperti+C%22">Lamperti C</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.<br /><searchLink fieldCode="AU" term="%22Lebigot+E%22">Lebigot E</searchLink>; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, Le Kremlin Bicêtre 94270, France.<br /><searchLink fieldCode="AU" term="%22Liu+Z%22">Liu Z</searchLink>; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100005, China.<br /><searchLink fieldCode="AU" term="%22Maier+EM%22">Maier EM</searchLink>; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, Munich 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Martinelli+D%22">Martinelli D</searchLink>; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.<br /><searchLink fieldCode="AU" term="%22McFarland+R%22">McFarland R</searchLink>; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.<br /><searchLink fieldCode="AU" term="%22Mendelsohn+B%22">Mendelsohn B</searchLink>; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA.<br /><searchLink fieldCode="AU" term="%22Molnar+MJ%22">Molnar MJ</searchLink>; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest 1085, Hungary.<br /><searchLink fieldCode="AU" term="%22Mundy+H%22">Mundy H</searchLink>; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK.<br /><searchLink fieldCode="AU" term="%22Nassogne+MC%22">Nassogne MC</searchLink>; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels 1200, Belgium.<br /><searchLink fieldCode="AU" term="%22Oliveira+A%22">Oliveira A</searchLink>; Medicine Department, Santa Maria University Hospital, Lisbon 1649-028, Portugal.<br /><searchLink fieldCode="AU" term="%22Õunap+K%22">Õunap K</searchLink>; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.<br /><searchLink fieldCode="AU" term="%22Panicucci+C%22">Panicucci C</searchLink>; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.<br /><searchLink fieldCode="AU" term="%22Parikh+S%22">Parikh S</searchLink>; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH 44195, USA.<br /><searchLink fieldCode="AU" term="%22Peters+H%22">Peters H</searchLink>; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Pichard+S%22">Pichard S</searchLink>; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France.<br /><searchLink fieldCode="AU" term="%22Plecko+B%22">Plecko B</searchLink>; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz 8010, Austria.<br /><searchLink fieldCode="AU" term="%22Ramadža+DP%22">Ramadža DP</searchLink>; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia.<br /><searchLink fieldCode="AU" term="%22Repetto+GM%22">Repetto GM</searchLink>; Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.<br /><searchLink fieldCode="AU" term="%22Rivera+I%22">Rivera I</searchLink>; Faculdade de Farmácia, iMed.ULisboa-Instituto de Investigação do Medicamento, Universidade de Lisboa, Lisbon 1649-003, Portugal.<br /><searchLink fieldCode="AU" term="%22Rodenburg+RJ%22">Rodenburg RJ</searchLink>; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen 6525, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rossi+A%22">Rossi A</searchLink>; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', Naples 80131, Italy.<br /><searchLink fieldCode="AU" term="%22Schiff+M%22">Schiff M</searchLink>; Reference Center for Inherited Metabolic Diseases and Reference Center for Mitochondrial Disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, Paris 75015, France.<br /><searchLink fieldCode="AU" term="%22Seidemann+K%22">Seidemann K</searchLink>; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Hannover 30625, Germany.<br /><searchLink fieldCode="AU" term="%22Smith+WE%22">Smith WE</searchLink>; Division of Genetics, MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Portland, ME 04102, USA.<br /><searchLink fieldCode="AU" term="%22Soares+S%22">Soares S</searchLink>; Neuropediatrics Unit, of the Pediatrics Department, Pedro Hispano Hospital, ULSM, Matosinhos 4464, Portugal.<br /><searchLink fieldCode="AU" term="%22Siri+B%22">Siri B</searchLink>; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.<br /><searchLink fieldCode="AU" term="%22Steinbrucker+K%22">Steinbrucker K</searchLink>; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa 16132, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.<br /><searchLink fieldCode="AU" term="%22Sykut-Cegielska+J%22">Sykut-Cegielska J</searchLink>; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw 01-211, Poland.<br /><searchLink fieldCode="AU" term="%22Tal+G%22">Tal G</searchLink>; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel.<br /><searchLink fieldCode="AU" term="%22Taylor+RW%22">Taylor RW</searchLink>; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.<br /><searchLink fieldCode="AU" term="%22Tsiakas+K%22">Tsiakas K</searchLink>; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.<br /><searchLink fieldCode="AU" term="%22Kalkan+Ucar+S%22">Kalkan Ucar S</searchLink>; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35100, Turkey.<br /><searchLink fieldCode="AU" term="%22Hoytema+van+Konijnenburg+E%22">Hoytema van Konijnenburg E</searchLink>; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht 3584 EA, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Woidy+M%22">Woidy M</searchLink>; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.<br /><searchLink fieldCode="AU" term="%22Yaplito-Lee+J%22">Yaplito-Lee J</searchLink>; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Yildiz+Y%22">Yildiz Y</searchLink>; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey.<br /><searchLink fieldCode="AU" term="%22Zenker+M%22">Zenker M</searchLink>; Institute of Human Genetics, University Hospital, Magdeburg 39120, Germany.<br /><searchLink fieldCode="AU" term="%22Zsidegh+P%22">Zsidegh P</searchLink>; Bókay Street Department, Pediatric Centre, Semmelweis University, Budapest 1083, Hungary.<br /><searchLink fieldCode="AU" term="%22Westphal+D%22">Westphal D</searchLink>; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, Salzburg 5020, Austria.<br /><searchLink fieldCode="AU" term="%22Sperl+W%22">Sperl W</searchLink>; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.<br /><searchLink fieldCode="AU" term="%22Meitinger+T%22">Meitinger T</searchLink>; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.<br /><searchLink fieldCode="AU" term="%22Brown+GK%22">Brown GK</searchLink>; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford OX3 7LE, UK.<br /><searchLink fieldCode="AU" term="%22Prokisch+H%22">Prokisch H</searchLink>; School of Medicine, Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg 85764, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Munich, Munich 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Mayr+JA%22">Mayr JA</searchLink>; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, Salzburg 5020, Austria.<br /><searchLink fieldCode="AU" term="%22Wortmann+SB%22">Wortmann SB</searchLink>; Expertise Centre for Mitochondrial Diseases (Mitohaus), University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg 5020, Austria.
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  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2026 Jul 07; Vol. 149 (7), pp. 2344-2362.
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      – TitleFull: The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
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          Dates:
            – D: 07
              M: 07
              Text: 2026 Jul 07
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 149
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1