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Organic Acid Metabolism Disorder
Known as:
Disorder of Organic Acid Metabolism
An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.
National Institutes of Health
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Related topics
Related topics
4 relations
Deficiency of acetyl-CoA acetyltransferase
Inborn Errors of Metabolism
Isovaleryl-CoA dehydrogenase deficiency
Propionic acidemia
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
[Propionic acidemia and long QT syndrome: A potentially serious combination].
A. Moure
,
M. Jiménez
,
R. Á. García-Rovés
,
N. G. Villanueva
,
C. Lopez
2015
Corpus ID: 78604968
2015
2015
[Propionic acidemia and long QT syndrome: A potentially serious combination].
Á. Fuertes Moure
,
M. Centeno Jiménez
,
R. Álvarez García-Rovés
,
N. Gil Villanueva
,
C. Medrano López
Anales de Pediatría
2015
Corpus ID: 27682853
2013
2013
Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria
S. Işıkay
,
K. Carman
BMJ Case Reports
2013
Corpus ID: 45722297
l-2-Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Clinical…
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Review
2007
Review
2007
[Neuroradiologic findings of glutaric aciduria type I].
E. de Luis
,
J. Larrache
,
R. García-Eulate
,
J. N. Garcia
,
J. Zubieta
Revista de medicina de la Universidad de Navarra
2007
Corpus ID: 22654201
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a…
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2002
2002
Neonatal onset propionic acidemia without acidosis: a case report.
İ. Akman
,
S. Imamoğlu
,
M. Demirkol
,
H. Alpay
,
E. Ozek
Turkish Journal of Pediatrics
2002
Corpus ID: 20055428
Propionic acidemia is an inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical…
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1998
1998
[Propionic acidemia in the neonatal period].
O. Matsuoka
,
A. Yamaguchi
,
A. L. Castellanof
,
L. Sadeck
,
J. L. Ramos
,
C. Leone
Revista do Hospital das Clínicas
1998
Corpus ID: 34837290
Propionic Acidemia is an inherited disorder of organic acid metabolism characterized by a wide spectrum of clinical and…
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1995
1995
Propionic acidemia without acidemia: a case report.
R. Ramachandran
,
J. Pietz
Journal of Perinatology
1995
Corpus ID: 23805668
Propionic acidemia is a recessively inherited disorder of organic acid metabolism characterized by a spectrum of clinical and…
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1993
1993
Propionic acidaemia: Sequence analysis of mutant mRNAs from Japanese β subunit-deficient patients
T. Ohura
,
K. Narisawa
,
K. Tada
Journal of Inherited Metabolic Disease
1993
Corpus ID: 21936587
Propionic acidaemia (McKusick 232000, 232050), a recessive disorder of organic acid metabolism, is caused by a deficiency of…
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1991
1991
CT and MR studies of methylmalonic acidemia.
C. Andreula
,
R. De blasi
,
A. Carella
AJNR. American journal of neuroradiology
1991
Corpus ID: 32399952
In our case, immediately after the onset of the disease, MR showed the cytotoxic edema affecting the pallidal nuclei bilaterally…
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Highly Cited
1988
Highly Cited
1988
Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.
F. Ledley
,
M. Lumetta
,
+4 authors
Allen
Proceedings of the National Academy of Sciences…
1988
Corpus ID: 20805901
L-Methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) is a mitochondrial adenosylcobalamin-requiring enzyme that catalyzes the…
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