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Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

Data up to Jan 2025

Published1994
Citations274
References40

Total Citations Per Year

Abstract

References (40)

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Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

1991 • 92 citations

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Frequency of Medium-Chain Acyl-CoA Dehydrogenase Deficiency G-985 Mutation in Sudden Infant Death Syndrome

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Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings

1990 • 35 citations

Intermittent hypoglycemia impairs glucose counterregulation

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Medium-Chain Acyl-Coa Dehydrogenase Deficiency: Postmortem Diagnosis in a Case of Sudden Infant Death and Neonatal Diagnosis of an Affected Sibling

1991 • 33 citations

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Reproducibility of glycaemic thresholds for activation of counterregulatory hormones and hypoglycaemic symptoms in healthy subjects

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Neonatal onset of medium-chain Acyl-CoA dehydrogenase deficiency in two siblings

1988 • 11 citations

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Heterogeneity for mutations in medium chain acyl‐CoA dehydrogenase deficiency in the UK population

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Diagnosis and Treatment of Peptic Ulcer Disease in Children

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Measurement of Blood Cortisol and Acid Output in Patients with Duodenal Ulceration and Normal Subjects During Insulin Hypoglycaemia

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Deleted Work

1955 • 0 citations

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