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Deficiency of butyryl-CoA dehydrogenase
Known as:
Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
, Butyryl-CoA Dehydrogenase Deficiency
, Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
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A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl…
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National Institutes of Health
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Related topics
Related topics
23 relations
2-Methylbutyryl-CoA Dehydrogenase Deficiency
ACADS gene
ACADS wt Allele
Autosomal recessive inheritance
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Broader (2)
Lipid Metabolism, Inborn Errors
acyl-CoA dehydrogenase
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
K. Carpenter
,
V. Wiley
,
K. Sim
,
D. Heath
,
B. Wilcken
Archives of Disease in Childhood: Fetal and…
2001
Corpus ID: 14710684
OBJECTIVE To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD…
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Highly Cited
2001
Highly Cited
2001
Regulation of lipid metabolism and gene expression by fenofibrate in hamsters.
Qiu Guo
,
Pei-ran Wang
,
+5 authors
Yu-Sheng Chao
Biochimica et Biophysica Acta
2001
Corpus ID: 28122106
Highly Cited
1999
Highly Cited
1999
Phenotypic characterization of Lith genes that determine susceptibility to cholesterol cholelithiasis in inbred mice: integrated activities of hepatic lipid regulatory enzymes.
F. Lammert
,
D. Q. Wang
,
B. Paigen
,
M. Carey
Journal of Lipid Research
1999
Corpus ID: 26110540
There is no consensus whether hepatic lipid regulatory enzymes play primary or secondary roles in cholesterol cholelithiasis. We…
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Highly Cited
1999
Highly Cited
1999
Species differences in sequence and activity of the peroxisome proliferator response element (PPRE) within the acyl CoA oxidase gene promoter.
K. Lambe
,
N. J. Woodyatt
,
N. Macdonald
,
S. Chevalier
,
R. A. Roberts
Toxicology Letters
1999
Corpus ID: 21598511
Highly Cited
1994
Highly Cited
1994
Metabolic disease and sudden, unexpected death in infancy.
Michael J. Bennett
,
S. Powell
Human Pathology
1994
Corpus ID: 41411053
Highly Cited
1986
Highly Cited
1986
Two acyl-coenzyme A oxidases in peroxisomes of the yeast Candida tropicalis: primary structures deduced from genomic DNA sequence.
K. Okazaki
,
Takanori Takechi
,
Naoki Kambara
,
Sakuzo FUKUIt
,
I. Kubota
,
T. Kamiryo
Proceedings of the National Academy of Sciences…
1986
Corpus ID: 21209649
We report the complete nucleotide sequence of two genes encoding major peroxisomal polypeptides (PXPs) of Candida tropicalis. One…
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Highly Cited
1982
Highly Cited
1982
Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in Oxidation
J. Saudubray
,
F. Coudé
,
France Demagre
,
Charles Johnson
,
K. Gibson
,
W. Nyhan
Pediatric Research
1982
Corpus ID: 5992633
Summary: A number of recently described inherited disorders interfere with the oxidation of fatty acids. In these disorders at…
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Highly Cited
1979
Highly Cited
1979
Esterification of cholesterol in human small intestine: the importance of acyl‐CoA:cholesterol acyltransferase
K. Norum
,
A. Lilljeqvist
,
P. Helgerud
,
ELDAR R. Normann
,
Arve Mo
,
B. Selbekk
European Journal of Clinical Investigation
1979
Corpus ID: 40824650
Abstract. Human intestinal mucosa contains acyl‐CoA: cholesterol acyltransferase activity. The enzyme has been studied by using…
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Highly Cited
1978
Highly Cited
1978
Separation and characterization of two long-chain acyl-CoA synthetases from Candida lipolytica.
M. Mishina
,
T. Kamiryo
,
S. Tashiro
,
S. Numa
European Journal of Biochemistry
1978
Corpus ID: 44495319
Two activities of long-chain acyl-CoA synthetase have been demonstrated in the particulate fraction derived from cells of Candida…
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Highly Cited
1969
Highly Cited
1969
Effects of ethylenic bond position upon acyltransferase activity with isomeric cis-octadecenoyl coenzyme A thiol esters.
R. Reitz
,
M. El-Sheikh
,
W. M. Lands
,
I. A. Ismail
,
F. Gunstone
Biochimica et Biophysica Acta
1969
Corpus ID: 27602821
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