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2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

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Title: 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.
Authors: Hiwot T; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK.; Department of Endocrinology, University Hospital Birmingham, Birmingham, UK., Porter FD; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Bremova-Ertl T; Department of Neurology, University Hospital Inselspital, Bern, Switzerland., Ramaswami U; Royal Free London NHS Foundation Trust, London, UK.; University College London, London, UK., Hastings C; UCSF Benioff Children's Hospital Oakland, Oakland, California, USA., Héron B; Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Armand Trousseau Hospital, Paris, France.; Hospitalo-Universitary Federation I2-D2, Sorbonne-Université, Assistance Publique-Hôpitaux de Paris, Paris, France., Hopkin J; University of Rochester School of Medicine and Dentistry, Rochester, New York, USA., Melville J; 67health, London, UK., Amartino H; Servicio de Neurología Infantil, Hospital Universitario Austral and Instituto Neurogenia, Buenos Aires, Argentina., Del Toro M; Pediatric Neurology Department, Unit of Hereditary Metabolic Disorders, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Deodato F; Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Ezgü F; Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.; Department of Inborn Metabolic Diseases, Faculty of Medicine, Gazi University, Ankara, Turkey., Gissen P; National Institute for Health Research, Great Ormond Street Hospital, Biomedical Research Centre, University College London, London, UK., Gibson JB; Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Department of Pediatrics, Dell Medical School at the University of Texas at Austin, Austin, Texas, USA., Ficicioglu C; The Children's Hospital of Philadelphia, Division of Genetics/Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Giugliani R; Universidade Federal do Rio Grande do Sul, Hospital de Clinicas de Porto Alegre, IMASP, Dasa Genomica, Casa dos Raros, Porto Alegre, Brazil., Staretz-Chacham O; Center for Rare Diseases, Soroka Medical Center, BenGurion University, Beer Sheva, Israel., Platt F; Department of Pharmacology, University of Oxford, Oxford, UK., Guffon N; Reference Center for Inborn Errors of Metabolism, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France., Julich K; The University of Texas at Austin Dell Medical School, Austin, Texas, USA., Kresojević N; Neurology Clinic, University Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Lehman A; Faculty of Medicine, Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Nadjar Y; Département de Neurologie/UF Neuro-Métabolisme, Centre de Référence des Maladies Métaboliques et Lysosomales Neurologiques (CRML-Neuro), Hôpital Pitié-Salpêtrière, Paris, France., Schneider SA; INSPIRE-PNRM+, Neuroimaging Center (NIC), University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Jones S; Genomic Medicine, Manchester University National Health Service Foundation Trust, Manchester, UK., Mengel E; Clinical Science for LSD, SphinCS, Hochheim, Germany., Tchan M; Westmead Hospital, Westmead, New South Wales, Australia., Walterfang M; Neuropsychiatry, Royal Melbourne Hospital, Parkville, Australia., Goker-Alpan O; Lysosomal and Rare Diseases Research and Treatment Center (LDRTC), Fairfax, Virginia, USA., Dawson C; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Cowie S; International Niemann-Pick Disease Alliance, Washington, Tyne and Wear, UK., Mathieson T; Niemann-Pick UK, Washington, Tyne and Wear, UK., Berry-Kravis E; Department of Pediatrics, Neurological Sciences, and Anatomy/Cell Biology, Rush University Medical Center, Chicago, Illinois, USA., Patterson MC; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.; IntraBio, Inc., Austin, Texas, USA.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2026 May; Vol. 49 (3), pp. e70185.
Publication Type: Journal Article; Review
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Hiwot+T%22">Hiwot T</searchLink>; Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK.; Department of Endocrinology, University Hospital Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Porter+FD%22">Porter FD</searchLink>; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Bremova-Ertl+T%22">Bremova-Ertl T</searchLink>; Department of Neurology, University Hospital Inselspital, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Ramaswami+U%22">Ramaswami U</searchLink>; Royal Free London NHS Foundation Trust, London, UK.; University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Hastings+C%22">Hastings C</searchLink>; UCSF Benioff Children's Hospital Oakland, Oakland, California, USA.<br /><searchLink fieldCode="AU" term="%22Héron+B%22">Héron B</searchLink>; Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Armand Trousseau Hospital, Paris, France.; Hospitalo-Universitary Federation I2-D2, Sorbonne-Université, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hopkin+J%22">Hopkin J</searchLink>; University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.<br /><searchLink fieldCode="AU" term="%22Melville+J%22">Melville J</searchLink>; 67health, London, UK.<br /><searchLink fieldCode="AU" term="%22Amartino+H%22">Amartino H</searchLink>; Servicio de Neurología Infantil, Hospital Universitario Austral and Instituto Neurogenia, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Del+Toro+M%22">Del Toro M</searchLink>; Pediatric Neurology Department, Unit of Hereditary Metabolic Disorders, Hospital Universitari Vall d'Hebron, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Deodato+F%22">Deodato F</searchLink>; Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ezgü+F%22">Ezgü F</searchLink>; Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.; Department of Inborn Metabolic Diseases, Faculty of Medicine, Gazi University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Gissen+P%22">Gissen P</searchLink>; National Institute for Health Research, Great Ormond Street Hospital, Biomedical Research Centre, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Gibson+JB%22">Gibson JB</searchLink>; Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Department of Pediatrics, Dell Medical School at the University of Texas at Austin, Austin, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Ficicioglu+C%22">Ficicioglu C</searchLink>; The Children's Hospital of Philadelphia, Division of Genetics/Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Giugliani+R%22">Giugliani R</searchLink>; Universidade Federal do Rio Grande do Sul, Hospital de Clinicas de Porto Alegre, IMASP, Dasa Genomica, Casa dos Raros, Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Staretz-Chacham+O%22">Staretz-Chacham O</searchLink>; Center for Rare Diseases, Soroka Medical Center, BenGurion University, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Platt+F%22">Platt F</searchLink>; Department of Pharmacology, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Guffon+N%22">Guffon N</searchLink>; Reference Center for Inborn Errors of Metabolism, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.<br /><searchLink fieldCode="AU" term="%22Julich+K%22">Julich K</searchLink>; The University of Texas at Austin Dell Medical School, Austin, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Kresojević+N%22">Kresojević N</searchLink>; Neurology Clinic, University Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Lehman+A%22">Lehman A</searchLink>; Faculty of Medicine, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Nadjar+Y%22">Nadjar Y</searchLink>; Département de Neurologie/UF Neuro-Métabolisme, Centre de Référence des Maladies Métaboliques et Lysosomales Neurologiques (CRML-Neuro), Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Schneider+SA%22">Schneider SA</searchLink>; INSPIRE-PNRM+, Neuroimaging Center (NIC), University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.<br /><searchLink fieldCode="AU" term="%22Jones+S%22">Jones S</searchLink>; Genomic Medicine, Manchester University National Health Service Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Mengel+E%22">Mengel E</searchLink>; Clinical Science for LSD, SphinCS, Hochheim, Germany.<br /><searchLink fieldCode="AU" term="%22Tchan+M%22">Tchan M</searchLink>; Westmead Hospital, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Walterfang+M%22">Walterfang M</searchLink>; Neuropsychiatry, Royal Melbourne Hospital, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Goker-Alpan+O%22">Goker-Alpan O</searchLink>; Lysosomal and Rare Diseases Research and Treatment Center (LDRTC), Fairfax, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Dawson+C%22">Dawson C</searchLink>; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Cowie+S%22">Cowie S</searchLink>; International Niemann-Pick Disease Alliance, Washington, Tyne and Wear, UK.<br /><searchLink fieldCode="AU" term="%22Mathieson+T%22">Mathieson T</searchLink>; Niemann-Pick UK, Washington, Tyne and Wear, UK.<br /><searchLink fieldCode="AU" term="%22Berry-Kravis+E%22">Berry-Kravis E</searchLink>; Department of Pediatrics, Neurological Sciences, and Anatomy/Cell Biology, Rush University Medical Center, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Patterson+MC%22">Patterson MC</searchLink>; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.; IntraBio, Inc., Austin, Texas, USA.
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