Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders.
about
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patientsBrown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatmentPossible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria)Inborn errors of amino acid and fatty acid metabolism with hypoglycemia as a major clinical manifestation.Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.Evidence for intermediate channeling in mitochondrial beta-oxidation.Newborn Screening for Glutaric Aciduria-II: The New England ExperienceDiagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment.Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.
P2860
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P2860
Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders.
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
1987年论文
@zh
1987年论文
@zh-cn
name
Clinical and biochemical varia ...... CoA dehydrogenation disorders.
@en
type
label
Clinical and biochemical varia ...... CoA dehydrogenation disorders.
@en
prefLabel
Clinical and biochemical varia ...... CoA dehydrogenation disorders.
@en
P2093
P1433
P1476
Clinical and biochemical varia ...... CoA dehydrogenation disorders.
@en
P2093
Fritchman K
Sweetman L
P304
P356
10.1203/00006450-198704000-00010
P407
P577
1987-04-01T00:00:00Z
P5875
P6179
1043707247