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Classical galactosemia

Known as: Classic Galactosemias, Epimerase Deficiency Galactosemias, Galactose 1 Phosphate Uridyl Transferase Deficiency Disease 
An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental… 
National Institutes of Health

Related topics

Related topics

22 relations
Anemia, HemolyticAutosomal recessive inheritanceCataractClassical galactosemia:Imp:Pt:Bld.dot:Ord

Broader (1)

Enzyme Deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with… 
Highly Cited
1998
Highly Cited
1998
Stable albinism induced without mutagenesis: a model for ribosome-free plastid inheritance.
Maternally inherited chlorophyll deficiency, or albinism, is a standard marker in plant cytoplasmic genetics. Its stability is… 
Highly Cited
1992
Highly Cited
1992
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.
Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a… 
Highly Cited
1991
Highly Cited
1991
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
We describe the molecular characterization of two mutations responsible for galactosemia, an inherited disorder of galatose… 
Highly Cited
1976
Highly Cited
1976
Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.
The distribution of G6PD red blood phenotypes in an unbiased sample of 77 Sardinian certain heterozygotes for the GdMediterranean… 
Highly Cited
1974
Highly Cited
1974
Hereditary angioedema and "familial" lupus erythematosus in identical twin boys.
Highly Cited
1969
Highly Cited
1969
The galactose operon of E. coli K-12. II. A deletion analysis of operon structure and polarity.
PREVIOUS genetic studies have conclusively established the order of the three structural genes in the galactose operon to be… 
Highly Cited
1967
Highly Cited
1967
The role of calcium in submaxillary saliva of patients with cystic fibrosis.
Highly Cited
1966
Highly Cited
1966
The genetics of galactose-1-phosphate uridyl transferase deficiency.
Highly Cited
1961
Highly Cited
1961
STUDIES ON CELL LINES DEVELOPED FROM THE TISSUES OF PATIENTS WITH GALACTOSEMIA
Cell lines were developed from biopsies on galactosemic and non-galactosemic patients. It was shown that one can discriminate… 
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