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A prevalent mutation for galactosemia among black Americans

Data up to Jan 2025

Published1996
Citations115
References24

Total Citations Per Year

Abstract

References (24)

Methods of Enzymatic Analysis

1975 • 20,446 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

1989 • 529 citations

Studies on the Fibrinogen, Dextran and Phytohemagglutinin Methods of Isolating Leukocytes

1956 • 462 citations

Disorders of Galactose Metabolism

2006 • 326 citations

The human galactose-1-phosphate uridyltransferase gene

1992 • 140 citations

A common mutation associated with the Duarte galactosemia allele.

1994 • 96 citations

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

1995 • 95 citations

Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

1988 • 74 citations

A molecular approach to galactosemia

1995 • 58 citations

An improved procedure for the assay of hemolysate galactose-1-phosphate uridyl transferase activity by the use of 14C-labeled galactose-1-phosphate

1967 • 57 citations

The oxidation of C14galactose by patients with congenital galactosemia

1968 • 56 citations

Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship

1966 • 54 citations

Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

1990 • 52 citations

Deposition and selective degradation of structually-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro

1994 • 52 citations

Liver galactose-l-phosphate uridyl transferase: activity in normal and galactosemic subjects

1971 • 51 citations

An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent.

1965 • 50 citations

Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.

1995 • 40 citations

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase

1992 • 39 citations

Stable Isotope Dilution Analysis of Galactitol in Amniotic Fluid: an Accurate Approach to the Prenatal Diagnosis of Galactosemia

1984 • 38 citations

Practical Methods to Estimate Whole Body Leucine Oxidation in Maple Syrup Urine Disease

1993 • 33 citations

Disorders of Galactose Metabolism

1995 • 26 citations

Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyltransferase

1982 • 25 citations

A minor tyrosine phosphorylation site located within the CAIN domain plays a critical role in regulating tissue-specific transformation by erbB kinase

1995 • 14 citations

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A prevalent mutation for galactosemia among black Americans (1996) – The Journal of Pediatrics | Metascience Observatory Explorer