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2006 2
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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
PURPOSE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of metabolism. ...
PURPOSE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of meta …
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.
Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ. Grosse SD, et al. Genet Med. 2006 Apr;8(4):205-12. doi: 10.1097/01.gim.0000204472.25153.8d. Genet Med. 2006. PMID: 16617240 Free article. Review.
The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and related inborn errors of metabolism. ...
The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has becom …
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.
Ma J, Zhang H, Liang F, Li G, Pang X, Zhao R, Wang J, Chang X, Guo J, Zhang W. Ma J, et al. Orphanet J Rare Dis. 2024 Feb 16;19(1):72. doi: 10.1186/s13023-024-03072-6. Orphanet J Rare Dis. 2024. PMID: 38365830 Free PMC article.
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. ...
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopat …
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H. Moorthie S, et al. J Inherit Metab Dis. 2014 Nov;37(6):889-98. doi: 10.1007/s10545-014-9729-0. Epub 2014 Jul 15. J Inherit Metab Dis. 2014. PMID: 25022222 Review.
MS/MS was introduced in 2009 in England to implement newborn bloodspot screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) raising the possibility of screening for other inherited metabolic disorders. ...
MS/MS was introduced in 2009 in England to implement newborn bloodspot screening for medium chain acyl-CoA dehydrogenase …
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Manta A, Spendiff S, Lochmüller H, Thompson R. Manta A, et al. J Neuromuscul Dis. 2021;8(3):401-417. doi: 10.3233/JND-200621. J Neuromuscul Dis. 2021. PMID: 33720849 Free PMC article.
The most studied metabolic myopathies were Pompe disease (45 articles), multiple acyl-CoA dehydrogenase deficiency related to mutations in the ETFDH gene (15 articles) and systemic primary carnitine deficiency (8 articles). ...
The most studied metabolic myopathies were Pompe disease (45 articles), multiple acyl-CoA dehydrogenase deficiency …