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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

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Title: Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Authors: Schwahn BC; Willink Metabolic Unit, Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Foundation Trust Manchester UK., Scheffner T; Klinikum am Steinenberg, Klinik für Kinder und Jugendmedizin School of Medicine University of Tübingen Reutlingen Germany., Stepman H; Laboratory for Metabolic diseases Ghent University Hospital Ghent Belgium., Verloo P; Department of Pediatric Neurology and Metabolic Diseases University Hospital Ghent Ghent Belgium., Das AM; Medizinische Hochschule Hannover Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen Hannover Germany., Fletcher J; Genetics and Molecular Pathology SA Pathology Adelaide Australia., Blom HJ; Metabolic Unit, Department of Clinical Genetics Center for Lysosomal and Metabolic Diseases. Erasmus Medical Center Rotterdam The Netherlands., Benoist JF; Service de Biochimie Hormonologie Hôpital Robert Debré, APHP Paris France., Barshop BA; Department of Pediatrics, Division of Biochemical Genetics, Rady Children's Hospital-San Diego University of California San Diego California., Barea JJ; Department of Pediatrics, Division of Biochemical Genetics, Rady Children's Hospital-San Diego University of California San Diego California., Feigenbaum A; Department of Pediatrics, Division of Biochemical Genetics, Rady Children's Hospital-San Diego University of California San Diego California.
Source: JIMD reports [JIMD Rep] 2020 Jan 08; Vol. 52 (1), pp. 3-10. Date of Electronic Publication: 2020 Jan 08 (Print Publication: 2020).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
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  Data: <searchLink fieldCode="AU" term="%22Schwahn+BC%22">Schwahn BC</searchLink>; Willink Metabolic Unit, Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Foundation Trust Manchester UK.<br /><searchLink fieldCode="AU" term="%22Scheffner+T%22">Scheffner T</searchLink>; Klinikum am Steinenberg, Klinik für Kinder und Jugendmedizin School of Medicine University of Tübingen Reutlingen Germany.<br /><searchLink fieldCode="AU" term="%22Stepman+H%22">Stepman H</searchLink>; Laboratory for Metabolic diseases Ghent University Hospital Ghent Belgium.<br /><searchLink fieldCode="AU" term="%22Verloo+P%22">Verloo P</searchLink>; Department of Pediatric Neurology and Metabolic Diseases University Hospital Ghent Ghent Belgium.<br /><searchLink fieldCode="AU" term="%22Das+AM%22">Das AM</searchLink>; Medizinische Hochschule Hannover Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen Hannover Germany.<br /><searchLink fieldCode="AU" term="%22Fletcher+J%22">Fletcher J</searchLink>; Genetics and Molecular Pathology SA Pathology Adelaide Australia.<br /><searchLink fieldCode="AU" term="%22Blom+HJ%22">Blom HJ</searchLink>; Metabolic Unit, Department of Clinical Genetics Center for Lysosomal and Metabolic Diseases. Erasmus Medical Center Rotterdam The Netherlands.<br /><searchLink fieldCode="AU" term="%22Benoist+JF%22">Benoist JF</searchLink>; Service de Biochimie Hormonologie Hôpital Robert Debré, APHP Paris France.<br /><searchLink fieldCode="AU" term="%22Barshop+BA%22">Barshop BA</searchLink>; Department of Pediatrics, Division of Biochemical Genetics, Rady Children's Hospital-San Diego University of California San Diego California.<br /><searchLink fieldCode="AU" term="%22Barea+JJ%22">Barea JJ</searchLink>; Department of Pediatrics, Division of Biochemical Genetics, Rady Children's Hospital-San Diego University of California San Diego California.<br /><searchLink fieldCode="AU" term="%22Feigenbaum+A%22">Feigenbaum A</searchLink>; Department of Pediatrics, Division of Biochemical Genetics, Rady Children's Hospital-San Diego University of California San Diego California.
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  Data: <searchLink fieldCode="JN" term="%22101568557%22">JIMD reports</searchLink> [JIMD Rep] 2020 Jan 08; Vol. 52 (1), pp. 3-10. <i>Date of Electronic Publication: </i>2020 Jan 08 (<i>Print Publication: </i>2020).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101568557 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2192-8304 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221928304%22">21928304 </searchLink><i>NLM ISO Abbreviation: </i>JIMD Rep <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1002/jmd2.12092
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              Text: 2020 Jan 08
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