Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutation

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein.

1992 • 337 citations

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

1996 • 160 citations

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein

1994 • 158 citations

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

1992 • 154 citations

Retinal Dystrophies and Degenerations

1989 • 146 citations

Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

1992 • 145 citations

Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

1997 • 134 citations

Combined enzyme defect of mitochondrial fatty acid oxidation.

1992 • 128 citations

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ‐oxidation

1990 • 121 citations

Identical mutations and phenotypic variation

1997 • 109 citations

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

1996 • 105 citations

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

1995 • 102 citations

Retinal Dystrophies and Degenerations.

1988 • 92 citations

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

1994 • 80 citations

The peroxisome and the eye

1991 • 79 citations

Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers.

1986 • 78 citations

3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

1991 • 76 citations

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1991 • 70 citations

Trifunctional enzyme deficiency: Adult presentation of a usually fatal β‐oxidation defect

1996 • 67 citations

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

1992 • 61 citations

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1996 • 56 citations

Lambda-crystallin, a major rabbit lens protein, is related to hydroxyacyl-coenzyme A dehydrogenases.

1988 • 49 citations

Pattern Dystrophy of the Retinal Pigment Epithelium and Geographic Atrophy of the Macula

1996 • 46 citations

Clinical Features of Progressive Bifocal Chonoretinal Atrophy

1996 • 42 citations

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

1991 • 40 citations

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C₆–C₁₄ hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

1988 • 39 citations

Mitochondrial Fatty Acid Oxidation Disorders

2013 • 38 citations

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

1995 • 37 citations

The Genes for the α and β Subunits of the Mitochondrial Trifunctional Protein Are Both Located in the Same Region of Human Chromosome 2p23

1996 • 37 citations

Gyrate Atrophy of the Choroid and Retina

1985 • 37 citations

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency—diagnosis, plasma carnitine fractions and management in a further patient

1993 • 27 citations

A New Case of C6–C14 Dicarboxylic Aciduria with Favourable Evolution

1986 • 27 citations

A new case of C₆–C₁₄ dicarboxylic aciduria with favourable evolution

1986 • 27 citations

β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria

1994 • 24 citations

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients

1991 • 23 citations

Peroxisomal Bifunctional Enzyme Complex Deficiency With Associated Retinal Findings

1995 • 8 citations

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