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Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.
Vester ME, Bilo RA, Karst WA, Daams JG, Duijst WL, van Rijn RR. Vester ME, et al. Forensic Sci Med Pathol. 2015 Sep;11(3):405-15. doi: 10.1007/s12024-015-9698-0. Epub 2015 Jul 29. Forensic Sci Med Pathol. 2015. PMID: 26219480 Free PMC article. Review.
PURPOSE: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme deficiency. ...
PURPOSE: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme defici …
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.
Boy N, Mengler K, Heringer-Seifert J, Hoffmann GF, Garbade SF, Kölker S. Boy N, et al. Genet Med. 2021 Jan;23(1):13-21. doi: 10.1038/s41436-020-00971-4. Epub 2020 Sep 28. Genet Med. 2021. PMID: 32981931 Free PMC article.
PURPOSE: Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated. ...
PURPOSE: Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement …
Newborn screening for inborn errors of metabolism: a systematic review.
Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH. Seymour CA, et al. Health Technol Assess. 1997;1(11):i-iv, 1-95. Health Technol Assess. 1997. PMID: 9483156 Free article. Review.
Of the many disorders of organic acid and fatty acid metabolism, a case can only be made for the introduction of newborn screening for glutaric aciduria type 1 (GA1; estimated incidence 1:40,000) and medium-chain acyl CoA dehydrogenase (MCAD) deficienc …
Of the many disorders of organic acid and fatty acid metabolism, a case can only be made for the introduction of newborn screening for gl …
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
Thomason MJ, Lord J, Bain MD, Chalmers RA, Littlejohns P, Addison GM, Wilcox AH, Seymour CA. Thomason MJ, et al. J Public Health Med. 1998 Sep;20(3):331-43. doi: 10.1093/oxfordjournals.pubmed.a024777. J Public Health Med. 1998. PMID: 9793900 Review.
There was reasonable evidence to support inclusion in extended neonatal screening of four other IEMs: biotinidase deficiency, congenital adrenal hyperplasia (CAH), medium-chain acyl CoA dehydrogenase (MCAD) deficiency and glutaric aciduria type 1 (GA1) …
There was reasonable evidence to support inclusion in extended neonatal screening of four other IEMs: biotinidase deficiency, congenital adr …