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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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Highly Cited
2000
Highly Cited
2000
Activase Region on Chloroplast Ribulose-1,5-bisphosphate Carboxylase/Oxygenase
In the active form of ribulose-1,5-bisphosphate carboxylase/oxygenase (Rubisco, EC 4.1.1.39), a carbamate at lysine 201 binds Mg2… 
1997
1997
Molecular Characterization of Pyruvate Carboxylase Deficiency in Two Consanguineous Families
Pyruvate carboxylase (PC) is a biotinylated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate… 
1988
1988
Reduced Cytosolic Fructose-1,6-Bisphosphatase Activity Leads to Loss of O(2) Sensitivity in a Flaveria linearis Mutant.
The mutant plant of Flaveria linearis characterized by Brown et al. (Plant Physiol. 81: 212-215) was studied to determine the… 
Highly Cited
1985
Highly Cited
1985
Regulation of phosphoenolpyruvate carboxylase from Crassula by interconversion of oligomeric forms.
1985
1985
Histochemical technique : a general method for quantitative enzyme assays of single cell ;extracts' with a time resolution of seconds and a reading precision of femtomoles.
Biochemists who study single cells have been constrained by the lack of a general methodology of high time resolution and high… 
1979
1979
Phosphoenolpyruvate carboxylase from soybean nodule cytosol. Evidence for isoenzymes and kinetics of the most active component.
Highly Cited
1978
Highly Cited
1978
Phosphoenolpyruvate carboxylase from the crassulacean plant Bryophyllum fedtschenkoi Hamet et Perrier. Purification, molecular and kinetic properties.
Phosphoenolpyruvate carboxylase from the Crassulacean plant Bryophyllum fedtschenkoi has been purified to homogenetity by DEAE… 
1971
1971
A Child with Lactacidemia and Fructose Diphosphatase Deficiency in the Liver
Extract: A female infant with a progressive liver disorder associated with persistent lactacidemia and a tendency toward… 
Highly Cited
1968
Highly Cited
1968
Factors affecting the premature induction of phosphopyruvate carboxylase in neonatal rat liver.
1. Phosphopyruvate carboxylase activity rapidly appears in the liver of prematurely delivered rats and development of activity is… 
Highly Cited
1967
Highly Cited
1967
BIOGENESIS OF CHLOROPLAST MEMBRANES
This paper describes the morphology and photosynthetic activity of a mutant of Chlamydomonas reinhardi (y-1) which is unable to… 
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