Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,741,294 papers from all fields of science
Search
Sign In
Create Free Account
Isovaleryl-CoA dehydrogenase deficiency
Known as:
Isovalericacidemia
, isovaleryl coA dehydrogenase deficiency
, Isovaleric acid CoA dehydrogenase deficiency
Expand
A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
25 relations
Broader (3)
Amino Acid Metabolism, Inborn Errors
Enzyme Deficiency
Isovaleryl-CoA dehydrogenase
Autosomal recessive inheritance
Comatose
Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom
Dehydration
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase
A. Montano
,
K. Sukegawa
,
+7 authors
S. Tomatsu
Journal of Inherited Metabolic Disease
2007
Corpus ID: 24361729
SummaryMucopolysaccharidosis IVA is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate…
Expand
Review
2005
Review
2005
Relationship of plasma homocysteine with the severity of chronic heart failure.
M. Herrmann
,
I. Kindermann
,
+4 authors
W. Herrmann
Clinical Chemistry
2005
Corpus ID: 11539313
Chronic heart failure (CHF) is a major public health problem causing considerable morbidity and mortality (1)(2)(3). Prevention…
Expand
Highly Cited
2000
Highly Cited
2000
Backbone dynamics of human Cu,Zn superoxide dismutase and of its monomeric F50E/G51E/E133Q mutant: the influence of dimerization on mobility and function.
L. Banci
,
I. Bertini
,
F. Cramaro
,
R. Del Conte
,
A. Rosato
,
M. Viezzoli
Biochemistry
2000
Corpus ID: 23370275
The backbone assignment of reduced human dimeric Cu,Zn superoxide dismutase (SOD) was performed on a sample 100% enriched in (15…
Expand
Highly Cited
1997
Highly Cited
1997
beta subunits influence the biophysical and pharmacological differences between P- and Q-type calcium currents expressed in a mammalian cell line.
H. Moreno
,
B. Rudy
,
R. Llinás
Proceedings of the National Academy of Sciences…
1997
Corpus ID: 22265422
Human epithelial kidney cells (HEK) were prepared to coexpress alpha1A, alpha2delta with different beta calcium channel subunits…
Expand
Highly Cited
1995
Highly Cited
1995
Distinct omega‐agatoxin‐sensitive calcium currents in somata and axon terminals of rat supraoptic neurones.
T. Fisher
,
C. Bourque
Journal of Physiology
1995
Corpus ID: 20442819
1. Voltage‐dependent calcium currents were measured at room temperature using whole‐cell patch clamp in acutely isolated somata…
Expand
1995
1995
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients
S. Tomatsu
,
S. Fukuda
,
+11 authors
Tadao Orii
1995
Corpus ID: 9087023
Highly Cited
1992
Highly Cited
1992
Alterations in the concentrations and binding properties of sex steroid binding protein and corticosteroid-binding globulin in HIV+patients
M. E. Martin
,
C. Benassayag
,
C. Amiel
,
P. Canton
,
E. Nunez
Journal of Endocrinological Investigation
1992
Corpus ID: 23479948
The abnormal concentrations of steroid hormones and free fatty acids in the plasma of HIV-infected subjects are associated with…
Expand
1990
1990
The Rett syndrome: Gross motor disability and neural impairment in adults
I. Witt‐Engerström
,
B. Hagberg
Brain & development (Tokyo. )
1990
Corpus ID: 4703738
Review
1984
Review
1984
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
J. Saudubray
,
H. Ogier
,
+7 authors
J. Frézal
Journal of Inherited Metabolic Disease
1984
Corpus ID: 27841100
Therapeutic guidelines have been obtained from a retrospective review of 41 patients affected with organic acidaemias, 16…
Expand
Highly Cited
1968
Highly Cited
1968
Identification of beta-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia.
K. Tanaka
,
J. C. Orr
,
K. Isselbacher
Biochimica et Biophysica Acta
1968
Corpus ID: 35760696
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE