A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD) (original) (raw)
Short-chain acyl-coenzyme A dehydrogenase deficiency
Michael Bennett
Molecular Genetics and Metabolism, 2008
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Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
Stanley Korman
Molecular Genetics and Metabolism, 2008
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Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency
Dusica Babovic-vuksanovic
Pediatric Research, 2001
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A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum
wahyu sugiarni
Clinical Genetics, 2014
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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening
Urh Groselj
Journal of International Medical Research, 2018
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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening
Urh Groselj
The Journal of international medical research, 2018
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Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course
Magdalena Ugarte
Journal of Inherited Metabolic Disease, 1996
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Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Gu-Hwan Kim
Korean journal of pediatrics, 2016
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Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency
Federica Invernizzi
Pediatric Neurology, 2000
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Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
Federica Invernizzi
Annals of Neurology, 1998
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Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: Use of stress and fat-loading tests
Davide Melotti
The Journal of Pediatrics, 1991
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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmaloni...
Thomas Corydon, Lars Bolund
Human Molecular Genetics, 1998
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Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*
Szabolcs Udvari
The American Journal of Human Genetics, 2001
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A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
Mohamed Rashed
Archives of Disease in Childhood, 2001
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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
Julie Neidich
Molecular genetics and metabolism, 2012
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REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population
Stanley Korman
Molecular Genetics and Metabolism, 2007
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Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?
C. Rockman-Greenberg
Journal of Inherited Metabolic Disease, 2000
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Multiple acyl-coenzyme A dehydrogenase deficiency: Diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card
Ida Di Giacinto
The Journal of Pediatrics, 1999
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Clinical and biochemical characterization of short-chain acyl-CoA dehydrogenase deficiency
Zeba Rahman
Journal of Pediatrics
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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic ac...
Thomas Corydon
1998
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Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Children with Non-Ketotic Hypoglycemia and Low Carnitine Levels
Barbara Corkey
Pediatric Research, 1983
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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
Susan Waisbren
Molecular Genetics and Metabolism, 2008
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A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature
Eresha Jasinge
2021
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Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
Anne Lombes
Neuromuscular Disorders, 2009
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Evidence in Colombia of 625G>A polymorphism in the short chain acyl-CoA dehydrogenase gene, a variation which could cause glutaric aciduria in our populations
Jose Henry Osorio
Colombia Medica
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Genetic Deficiency of Medium-Chain Acyl Coenzyme A Dehydrogenase: Studies in Cultured Skin Fibroblasts and Peripheral Mononuclear Leukocytes
Barbara Corkey
Pediatric Research, 1985
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Neonatal onset of medium-chain Acyl-CoA dehydrogenase deficiency in two siblings
Fumio Endo
Brain and Development, 1988
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Medium-chain Acyl-CoA Dehydrogenase Deficiency: Metabolic Effects and Therapeutic Efficacy of Long-term L-Carnitine Supplementation
William Treem
Journal of Inherited Metabolic Disease, 1989
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