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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
2014
Highly Cited
2014
Reappraisal of known malaria resistance loci in a large multi-centre study
Many human genetic associations with resistance to malaria have been reported, but few have been reliably replicated. We… 
Review
2011
Review
2011
Population genetics of malaria resistance in humans
The high mortality and widespread impact of malaria have resulted in this disease being the strongest evolutionary selective… 
Highly Cited
2007
Highly Cited
2007
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.
Review
2005
Review
2005
From the Southern Association for Vascular Surgery The spectrum , management and clinical outcome of Ehlers-Danlos syndrome type IV : A 30-year experience
Purpose: Ehlers-Danlos syndrome type IV (EDS-IV) results from abnormal procollagen III synthesis and leads to arterial… 
Highly Cited
2005
Highly Cited
2005
Modifier loci condition autoimmunity provoked by Aire deficiency
Loss of function mutations in the autoimmune regulator (Aire) gene in autoimmune polyendocrinopathy-candidiasis-ectodermal… 
Highly Cited
2000
Highly Cited
2000
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Cytochrome c oxidase (COX) defects are found in a clinically and genetically heterogeneous group of mitochondrial disorders. To… 
Highly Cited
1994
Highly Cited
1994
Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene
Mouse cartilage matrix deficiency (cmd) is an autosomal recessive mutation characterized by cleft palate, short limbs, tail and… 
Highly Cited
1993
Highly Cited
1993
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous… 
Highly Cited
1981
Highly Cited
1981
The organization and transcription of the galactose gene cluster of Saccharomyces.
Highly Cited
1975
Highly Cited
1975
Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.
The final step in heme biosynthesis is chelation of porphyrin with Fe++ catalyzed by the mitochondrial enzyme heme synthetase. We… 
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