Hypoparathyroidism in mitochondrial trifunctional protein deficiency

Diagnosis of Bone and Joint Disorders

1987 • 2,059 citations

Clinical Disorders of Fluid and Electrolyte Metabolism

1964 • 364 citations

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

1993 • 214 citations

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1993 • 201 citations

Endocrine dysfunction in Kearns‐Sayre syndrome

1992 • 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

Combined enzyme defect of mitochondrial fatty acid oxidation.

1992 • 128 citations

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

1994 • 80 citations

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

1991 • 70 citations

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

1992 • 61 citations

Hypocalcemic myopathy in idiopathic hypoparathyroidism

1982 • 27 citations