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Holocarboxylase Synthetase Deficiency

Known as: Early Onset Combined Carboxylase Deficiency, Holocarboxylase Synthetase Deficiency [Disease/Finding], MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET 
A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase… 
National Institutes of Health

Related topics

Related topics

21 relations
AlopeciaAutosomal recessive inheritanceBiotinComatose

Papers overview

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2009
2009
Hypolipidemic Effect of Citrullus Colocynthis Seed Powder in Alloxan Induced Diabetic Rats.
This study was undertaken to investigate the effect of Citrullus Colocynthis on blood glucose and some other Lipid biochemical… 
2002
2002
Activities of Carbonic Anhydrase and Ribulose-1,5-Bisphosphate Carboxylase, and Dry Mass Accumulation in Brassica juncea following Defoliation
The effect of 30 % defoliation of shaded leaves in lower layers of plant was studied on activities of carbonic anhydrase (CA) and… 
1984
1984
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
In biotin-responsive multiple carboxylase deficiency, a characteristic organic aciduria reflects in vivo deficiency of… 
1983
1983
Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.
Fibroblast extracts and fetal liver homogenates from patients with propionic acidemia due to inherited deficiency of propionyl… 
1981
1981
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Three biotin-dependent enzymes, pyruvate carboxylase (PC), propionyl CoA carboxylase (PCC), and beta-methylcrotonyl CoA… 
1976
1976
Role of oxalacetate in lipoate effect on frog gastric mucosa.
The mechanism of action of lipoate on frog gastric mucosa was investigated. Oxalacetate (OAA) reversed lipoate-inhibited QO2 and… 
1974
1974
Carboanhydrase-Aktivität und Enzyme des Glykolatweges in der Blaualge Anacystis nidulans
SummaryThe blue-green alga Anacystis nidulans (strain L 1402-1) was grown in air (0.03 vol. % CO2) and in 3.0 vol. % CO2 at +35… 
1973
1973
Regulation of de novo fatty acid biosynthesis in the n-alkane-utilizing yeast, Candida 107.
SUMMARY: Growth of Candida 107 on n-alkanes (C10, C16 or a mixture) completely repressed formation of acetyl-CoA carboxylase and… 
1970
1970
The role of pyruvate carboxylase and phosphopyruvate carboxylase (P-enolpyruvate carboxykinase) in adipose tissue.
1949
1949
The beta-carboxylases of plants; some properties of oxalacetic carboxylase and its quantitative assay.