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Quoted phrase not found in phrase index: "Multiple acyl-CoA dehydrogenase deficiency, mild type"
Page 1
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y, Zheng W, Chen Y, Huang C, Fu Q, Chen D, Peng W. Lin Y, et al. Clin Chim Acta. 2022 Dec 1;537:181-187. doi: 10.1016/j.cca.2022.10.024. Epub 2022 Nov 5. Clin Chim Acta. 2022. PMID: 36334790
BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensitivity. ...The most common ETFDH variant being c.250G > A with an allelic frequency of 47.22 %, followed by c.524G > A (13.89 %) and c. …
BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensit …
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P. Macchione F, et al. J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29. J Neurol. 2020. PMID: 31997039
Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer …
Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessiv …
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM. Henriques BJ, et al. Curr Mol Med. 2019;19(7):487-493. doi: 10.2174/1566524019666190507114748. Curr Mol Med. 2019. PMID: 31418342
BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a congenital rare metabolic disease with broad clinical phenotypes and variable evolution. ...However, when any of these mutations are in heterozygosity with the known ETF:QO-p.Pro …
BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a congenital rare metabolic disease with …
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E. Gilbert-Barness E. Ann Clin Lab Sci. 2004 Winter;34(1):15-34. Ann Clin Lab Sci. 2004. PMID: 15038665 Review.
These include the glycogen storage diseases, ie, acid maltase deficiency (infantile, childhood, and adult onset), McArdle disease, and debrancher and brancher deficiencies. Disorders of lipid metabolism include systemic carnitine deficiency and abnormalities of carn …
These include the glycogen storage diseases, ie, acid maltase deficiency (infantile, childhood, and adult onset), McArdle disease, an …
A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.
De Pasquale L, Meo P, Fulia F, Anania A, Meli V, Mondello A, Raimondo MT, Tulino V, Coletta MS, Cacace C. De Pasquale L, et al. Ital J Pediatr. 2022 Sep 5;48(1):164. doi: 10.1186/s13052-022-01356-w. Ital J Pediatr. 2022. PMID: 36064718 Free PMC article.
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the ge …
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an e …
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, Taketani T. Yamada K, et al. Brain Dev. 2019 Aug;41(7):638-642. doi: 10.1016/j.braindev.2019.04.002. Epub 2019 Apr 11. Brain Dev. 2019. PMID: 30982706
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is classically caused by a congenital defect in electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH). ...Persistent lactic aci …
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is cla …
Management of pregnancy and childbirth in a patient with glutaric aciduria type II.
Restaino S, Sala A, Angelini M, Zanin V, Poli A, Angeli C, Ferrara F, Pezzarini V, Vizzielli G, Driul L. Restaino S, et al. Minerva Obstet Gynecol. 2024 Feb;76(1):102-106. doi: 10.23736/S2724-606X.22.05121-1. Epub 2022 Oct 18. Minerva Obstet Gynecol. 2024. PMID: 36255160 Review.
Glutaric aciduria type II (GA II) is a genetic disorder that interferes with the body's ability to break down proteins and fats to produce energy. ...Pregnancy may be a high-risk period in women affected by metabolic disorders, because the mother must guarantee wellness fo …
Glutaric aciduria type II (GA II) is a genetic disorder that interferes with the body's ability to break down proteins and fats to pr …
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.
Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C. Wen B, et al. J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):231-6. doi: 10.1136/jnnp.2009.176404. Epub 2009 Sep 15. J Neurol Neurosurg Psychiatry. 2010. PMID: 19758981
RESULTS: On the basis of muscle pathology, all 19 patients were diagnosed as LSM. Seventeen patients were suspected of having multiple acyl-coenzyme A dehydrogenase deficiency (MADD) according to blood acylcarnitine profiles and urine org …
RESULTS: On the basis of muscle pathology, all 19 patients were diagnosed as LSM. Seventeen patients were suspected of having multiple …
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM. Wolfe LA, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(0 3):S481-7. doi: 10.1007/s10545-010-9246-8. Epub 2010 Nov 19. J Inherit Metab Dis. 2010. PMID: 21088898 Free PMC article.
Glutaric aciduria Type II was suspected based upon biochemical findings and managed with cornstarch, carnitine and riboflavin supplements. ...At age 18 years, he developed exercise intolerance and proximal muscle weakness leading to the identification of multiple …
Glutaric aciduria Type II was suspected based upon biochemical findings and managed with cornstarch, carnitine and riboflavin supplem …
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S. Yotsumoto Y, et al. Mol Genet Metab. 2008 May;94(1):61-7. doi: 10.1016/j.ymgme.2008.01.002. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18289905
Glutaric acidemia type 2 (GA2) is an autosomal recessive disorder resulting from a deficiency of electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH) that manifests from most severe neonatal to late-onset forms. ...However, no specific enzyme …
Glutaric acidemia type 2 (GA2) is an autosomal recessive disorder resulting from a deficiency of electron transfer flavoprotei …
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