Deficit of uridine diphosphate galactose in galactosaemia

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

Hypergonadotropic Hypogonadism in Female Patients with Galactosemia

1981 • 267 citations

Speech and language deficits in early-treated children with galactosemia

1983 • 92 citations

THE NEUROPATHOLOGY OF GALACTOSEMIA

1971 • 73 citations

Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia

1988 • 65 citations

Uridine Diphosphate Glucose Pyrophosphorylase

1970 • 63 citations

Hereditary orotic aciduria: Long-term therapy with uridine and a trial of uracil

1969 • 52 citations

Inhibitor studies on uridine diphosphoglucose pyrophosphorylase

1961 • 49 citations

Curious Neurologic Sequelae in Galactosemia

1984 • 48 citations

Formation of Galactose-1-Phosphate from Uridine Diphosphate Galactose in Erythrocytes from Patients with Galactosemia[31]

1969 • 45 citations

Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins

1986 • 44 citations

Curious neurologic sequelae in galactosemia.

1984 • 42 citations

Estimation of galactose-1-phosphate in erythrocytes: A rapid and simple enzymatic method

1969 • 42 citations

Galactosemia

1967 • 24 citations

Congenital Galactosemia and Orotic Acid Therapy with Promising Results: Preliminary Report

1962 • 11 citations

A new mass screening method for determining UDP-galactose in blood.

1983 • 10 citations

Inhibition and inactivation of bovine mammary and liver UDP-galactose-4-epimerases.

1977 • 9 citations

Biochemical studies of a human low‐activity galactose‐1‐phosphate uridyl transferase variant

1978 • 7 citations

Observations on the influence of orotic acid on galactosemetabolism in congenital galactosemia

1966 • 5 citations

Pyruvate carboxylase defect: Metabolic studies on cultured skin fibroblasts

1985 • 4 citations