Possible deleterious effect of<scp>L</scp>‐carnitine supplementation in a patient with mild multiple acyl‐CoA dehydrogenation deficiency (ethylmalonic‐adipic aciduria)

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

1988 • 306 citations

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1988 • 211 citations

A comparison of [9,10‐³H]palmitic and [9,10‐³H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1989 • 153 citations

Glutaric Acidemia Type II: Heterogeneity of Clinical and Biochemical Phenotypes

1990 • 104 citations

Fatty acid oxidation: Clinical, biochemical, and molecular aspects

1991 • 97 citations

Systemic carnitine deficiency simulating recurrent Reye syndrome

1980 • 80 citations

Measurement of L-carnitine and acylcarnitines in body fluids and tissues in children and in adults

1990 • 53 citations

Clinical and Biochemical Variation and Family Studies in the Multiple Acyl-CoA Dehydrogenation Disorders

1987 • 44 citations

Riboflavin‐responsive ethylmalonic—adipic aciduria

1984 • 38 citations

[Glutaric acidemia type II].

1988 • 34 citations

Medium‐chain acyl‐CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long‐term<scp>l</scp>‐carnitine supplementation

1988 • 32 citations

The use of phenylpropionic acid as a loading test for medium‐chain acyl‐CoA dehydrogenase deficiency

1988 • 30 citations

A genetic defect in carnitine transport causing primary carnitine deficiency.

1990 • 27 citations

Riboflavin Responsive Multiple Acyl‐CoA Dehydrogenation Deficiency

1986 • 26 citations

The importance of recognizing secondary carnitine deficiency in organic acidaemias: Case report in glutaric acidaemia type II

1988 • 11 citations

MEDIUM CHAIN ACYL-CoA DEHYDROGENASE (MCD) DEFICIENCY

1984 • 6 citations