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. |
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| 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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| ISSN: | 2192-8304 |
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| DOI: | 10.1002/jmd2.12092 |
