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Holocarboxylase Synthetase Deficiency
Known as:
Early Onset Combined Carboxylase Deficiency
, Holocarboxylase Synthetase Deficiency [Disease/Finding]
, MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
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A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase…
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National Institutes of Health
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Related topics
Related topics
21 relations
Alopecia
Autosomal recessive inheritance
Biotin
Comatose
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2000
Highly Cited
2000
Activase Region on Chloroplast Ribulose-1,5-bisphosphate Carboxylase/Oxygenase
Carolyn M Ott
,
Bryan D. Smith
,
A. Portis
,
R. J. Spreitzer
Journal of Biological Chemistry
2000
Corpus ID: 28186966
In the active form of ribulose-1,5-bisphosphate carboxylase/oxygenase (Rubisco, EC 4.1.1.39), a carbamate at lysine 201 binds Mg2…
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1997
1997
Molecular Characterization of Pyruvate Carboxylase Deficiency in Two Consanguineous Families
I. Wexler
,
D. Kerr
,
+5 authors
J. Higgins
Pediatric Research
1997
Corpus ID: 19610244
Pyruvate carboxylase (PC) is a biotinylated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate…
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1988
1988
Reduced Cytosolic Fructose-1,6-Bisphosphatase Activity Leads to Loss of O(2) Sensitivity in a Flaveria linearis Mutant.
T. Sharkey
,
J. Kobza
,
J. Seemann
,
R. Brown
Plant Physiology
1988
Corpus ID: 6318790
The mutant plant of Flaveria linearis characterized by Brown et al. (Plant Physiol. 81: 212-215) was studied to determine the…
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Highly Cited
1985
Highly Cited
1985
Regulation of phosphoenolpyruvate carboxylase from Crassula by interconversion of oligomeric forms.
M. X. Wu
,
R. Wedding
Archives of Biochemistry and Biophysics
1985
Corpus ID: 23046154
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.
W. H. Outlaw
,
S. Springer
,
M. C. Tarczynski
Plant Physiology
1985
Corpus ID: 22032017
Biochemists who study single cells have been constrained by the lack of a general methodology of high time resolution and high…
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1979
1979
Phosphoenolpyruvate carboxylase from soybean nodule cytosol. Evidence for isoenzymes and kinetics of the most active component.
J. B. Peterson
,
H. Evans
Biochimica et Biophysica Acta
1979
Corpus ID: 41809292
Highly Cited
1978
Highly Cited
1978
Phosphoenolpyruvate carboxylase from the crassulacean plant Bryophyllum fedtschenkoi Hamet et Perrier. Purification, molecular and kinetic properties.
Robert Jones
,
Malcolm B. Wilkins
,
J. R. Coggins
,
C. A. Fewson
,
Alan D. B. MALCOLMt
Biochemical Journal
1978
Corpus ID: 28467642
Phosphoenolpyruvate carboxylase from the Crassulacean plant Bryophyllum fedtschenkoi has been purified to homogenetity by DEAE…
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1971
1971
A Child with Lactacidemia and Fructose Diphosphatase Deficiency in the Liver
W. C. Hülsmann
,
J. Fernandes
Pediatric Research
1971
Corpus ID: 8381954
Extract: A female infant with a progressive liver disorder associated with persistent lactacidemia and a tendency toward…
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Highly Cited
1968
Highly Cited
1968
Factors affecting the premature induction of phosphopyruvate carboxylase in neonatal rat liver.
D. Yeung
,
I. T. Oliver
Biochemical Journal
1968
Corpus ID: 22982989
1. Phosphopyruvate carboxylase activity rapidly appears in the liver of prematurely delivered rats and development of activity is…
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Highly Cited
1967
Highly Cited
1967
BIOGENESIS OF CHLOROPLAST MEMBRANES
I. Ohad
,
P. Siekevitz
,
G. Palade
Journal of Cell Biology
1967
Corpus ID: 84561291
This paper describes the morphology and photosynthetic activity of a mutant of Chlamydomonas reinhardi (y-1) which is unable to…
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