Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

A Flexible System of Enzymatic Analysis

1972 • 4,133 citations

Effect of Ischemia on Known Substrates and Cofactors of the Glycolytic Pathway in Brain

1964 • 2,227 citations

[1] Citrate synthase

1969 • 1,958 citations

Hormone-fuel interrelationships during fasting.

1966 • 1,032 citations

Adenosine Triphosphate Conservation in Metabolic Regulation

1967 • 878 citations

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

1951 • 761 citations

Leigh's Encephalomyelopathy in a Patient With Cytochrome c Oxidase Deficiency in Muscle Tissue

1977 • 237 citations

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis.

1968 • 201 citations

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY: A REVIEW AND A STUDY OF TWO FAMILIES

1971 • 176 citations

In-vivo Measurement of Glucose and Alanine Metabolism with Stable Isotopic Tracers

1977 • 168 citations

Control of Hepatic Mitochondrial CO2 Fixation by Glucagon, Epinephrine, and Cortisol

1969 • 163 citations

Normal and Pathological Development of Energy Metabolism

1976 • 119 citations

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

1977 • 116 citations

Ketonic Diet in the Management of Pyruvate Dehydrogenase Deficiency

1976 • 111 citations

Subdural empyema in infants, children and adults

1973 • 97 citations

A microfluorometric enzymatic assay for the determination of alanine and pyruvate in plasma and tissues.

1972 • 94 citations

Phosphorylation of additional sites on pyruvate dehydrogenase inhibits its re-activation by pyruvate dehydrogenase phosphate phosphatase

1978 • 89 citations

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

1979 • 89 citations

Neonatal congential lactic acidosis with pyruvte carboxylase deficiency in two siblings.

1976 • 89 citations

The activity of pyruvate dehydrogenase in rat brain during postnatal development

1974 • 88 citations

ANALYSIS OF THE PREFERENTIAL RELEASE OF NEWLY SYNTHESIZED ACETYLCHOLINE BY CORTICAL SLICES FROM RAT BRAIN WITH THE AID OF TWO DIFFERENT LABELLED PRECURSORS

1976 • 86 citations

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY

1975 • 86 citations

Fatal Lactic Acidosis in a Newborn Attributable to a Congenital Defect of Pyruvate Dehydrogenase

1976 • 86 citations

Absence of Pyruvate Decarboxylase Activity in Man: A Cause of Congenital Lactic Acidosis

1975 • 82 citations

Lactic acidosis with necrotizing encephalopathy in two sibs.

1965 • 82 citations

Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate.

1967 • 79 citations

Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy

1975 • 78 citations

Brain glutamate decarboxylase: changes in the developing rat brain¹

1970 • 76 citations

Biochemical studies and therapy in subacute necrotizing encephalomyelopathy (Leigh's syndrome)

1972 • 68 citations

Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.

1976 • 65 citations

THE REGULATION OF PYRUVATE DEHYDROGENASE IN BRAIN IN VIVO

1976 • 62 citations

NEONATAL CONGENITAL LACTIC ACIDOSIS WITH PYRUVATE CARBOXYLASE DEFICIENCY IN TWO SIBLINGS

1976 • 61 citations

Pathogenesis of Leigh's encephalomyelopathy

1972 • 58 citations

Lactic Acidosis in Three Sibs Due to Defects in Both Pyruvate Dehydrogenase and α-Ketoglutarate Dehydrogenase Complexes

1976 • 56 citations

Determination of pyruvate oxidation rate and citric acid cycle activity in intact human leukocytes and fibroblasts.

1978 • 41 citations

ION EXCHANGE CHROMATOGRAPHY OF THE FREE AMINO ACIDS IN THE PLASMA OF INFANTS UNDER 2,500 GM AT BIRTH

1970 • 39 citations

Leigh's syndrome

1973 • 30 citations

Hypoglycemia and Maple Syrup Urine Disease: Defective Gluconeogenesis

1973 • 29 citations

Glucose and Alanine Metabolism in Children with Maple Syrup Urine Disease

1978 • 29 citations

Regulation of the Human Pyruvate Dehydrogenase Complex

1976 • 28 citations

Hyperalaninemia with Pyruvicemia in a Patient Suggestive of Leigh's Encephalomyelopathy

1973 • 26 citations

A ROLE FOR THIAMINE IN THE REGULATION OF FATTY ACID AND CHOLESTEROL BIOSYNTHESIS IN CULTURED CELLS OF NEURAL ORIGIN¹

1978 • 25 citations

Pyruvate Dehydrogenase Phosphatase Deficiency

1975 • 17 citations

Glycolytic metabolism in cultured cells of the nervous system IV. The effects of thiamine deficiency on thiamine levels, metabolites and thiamine-dependent enzymes of the C-6 glioma and C-1300 neuroblastoma cell lines.

1976 • 16 citations