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Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

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Title: Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Authors: Spenger J; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Maier EM; Division of Metabolism, Dr. von Hauner Children's Hospital, D-80337 Munich, Germany., Wechselberger K; Division of Neuropediatrics, Children's Hospital Lucerne, CH-6004 Lucerne, Switzerland., Bauder F; Division of Neuropediatrics, Children's Hospital Lucerne, CH-6004 Lucerne, Switzerland., Kocher M; Kinderarztpraxis Arche, CH-3270 Aarberg, Switzerland., Sperl W; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Preisel M; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Schiergens KA; Division of Metabolism, Dr. von Hauner Children's Hospital, D-80337 Munich, Germany., Konstantopoulou V; Austrian Newborn Screening Program, Departement of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria., Röschinger W; Division of Newborn Screening, Laboratory Becker & Colleagues, D-81671 Munich, Germany., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland., Schmitt-Mechelke T; Division of Neuropediatrics, Children's Hospital Lucerne, CH-6004 Lucerne, Switzerland., Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Fingerhut R; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland.; Swiss Newborn Screening Laboratory, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland.
Source: International journal of neonatal screening [Int J Neonatal Screen] 2021 Jun 18; Vol. 7 (2). Date of Electronic Publication: 2021 Jun 18.
Publication Type: Journal Article
Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
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  Data: <searchLink fieldCode="AU" term="%22Spenger+J%22">Spenger J</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Maier+EM%22">Maier EM</searchLink>; Division of Metabolism, Dr. von Hauner Children's Hospital, D-80337 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Wechselberger+K%22">Wechselberger K</searchLink>; Division of Neuropediatrics, Children's Hospital Lucerne, CH-6004 Lucerne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Bauder+F%22">Bauder F</searchLink>; Division of Neuropediatrics, Children's Hospital Lucerne, CH-6004 Lucerne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kocher+M%22">Kocher M</searchLink>; Kinderarztpraxis Arche, CH-3270 Aarberg, Switzerland.<br /><searchLink fieldCode="AU" term="%22Sperl+W%22">Sperl W</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Preisel+M%22">Preisel M</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Schiergens+KA%22">Schiergens KA</searchLink>; Division of Metabolism, Dr. von Hauner Children's Hospital, D-80337 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Konstantopoulou+V%22">Konstantopoulou V</searchLink>; Austrian Newborn Screening Program, Departement of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Röschinger+W%22">Röschinger W</searchLink>; Division of Newborn Screening, Laboratory Becker & Colleagues, D-81671 Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Häberle+J%22">Häberle J</searchLink>; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Schmitt-Mechelke+T%22">Schmitt-Mechelke T</searchLink>; Division of Neuropediatrics, Children's Hospital Lucerne, CH-6004 Lucerne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Wortmann+SB%22">Wortmann SB</searchLink>; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Fingerhut+R%22">Fingerhut R</searchLink>; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland.; Swiss Newborn Screening Laboratory, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland.
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  Data: <searchLink fieldCode="JN" term="%22101665400%22">International journal of neonatal screening</searchLink> [Int J Neonatal Screen] 2021 Jun 18; Vol. 7 (2). <i>Date of Electronic Publication: </i>2021 Jun 18.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101665400 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2409-515X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222409515X%22">2409515X </searchLink><i>NLM ISO Abbreviation: </i>Int J Neonatal Screen <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2021 Jun 18
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