Skip to search formSkip to main contentSkip to account menu

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2000
Highly Cited
2000
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
Pyruvate carboxylase (PC) is a biotinylated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate… 
1988
1988
The mutant plant of Flaveria linearis characterized by Brown et al. (Plant Physiol. 81: 212-215) was studied to determine the… 
1985
1985
Biochemists who study single cells have been constrained by the lack of a general methodology of high time resolution and high… 
Highly Cited
1978
Highly Cited
1978
Phosphoenolpyruvate carboxylase from the Crassulacean plant Bryophyllum fedtschenkoi has been purified to homogenetity by DEAE… 
1971
1971
Extract: A female infant with a progressive liver disorder associated with persistent lactacidemia and a tendency toward… 
Highly Cited
1968
Highly Cited
1968
1. Phosphopyruvate carboxylase activity rapidly appears in the liver of prematurely delivered rats and development of activity is… 
Highly Cited
1967
Highly Cited
1967
This paper describes the morphology and photosynthetic activity of a mutant of Chlamydomonas reinhardi (y-1) which is unable to…