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Deficiency of acetyl-CoA acetyltransferase
Known as:
3-Methylhydroxybutyric Acidemia
, Beta ketothiolase deficiency
, 3-KTD DEFICIENCY
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A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the…
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National Institutes of Health
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Related topics
Related topics
12 relations
ACAT1, ASN93SER
Autosomal recessive inheritance
Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom
Dehydration
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Broader (2)
Acetyl-CoA C-Acyltransferase
Amino Acid Metabolism, Inborn Errors
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Structural library of coordination polymers based on flexible linkers exploiting the role of linker coordination angle: synthesis, structural characterization and magnetic properties
B. K. Tripuramallu
,
Paulami Manna
,
Samar K. Das
2014
Corpus ID: 97330791
Herein we report six new coordination polymers [Co(1,2-pda)(1,2-bix)]n (1a), [Co(hfipbb)(1,2-bix)]n·nH2O (2a), [Co(ADA)(1,2-bix…
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2011
2011
Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism.
Daniela Ombrone
,
F. Salvatore
,
M. Ruoppolo
Analytical Biochemistry
2011
Corpus ID: 9926621
2008
2008
Aggregation of the hairy rod conjugated polyelectrolyte poly{1,4-phenylene-[9,9-bis(4-phenoxybutylsulfonate)]fluorene-2,7-diyl} in aqueous solution: an experimental and molecular modelling study.
H. Burrows
,
S. M. Fonseca
,
+4 authors
U. Scherf
Physical Chemistry, Chemical Physics - PCCP
2008
Corpus ID: 205708944
The aggregation of the fluorescent hairy rod, anionic conjugated polyelectrolyte poly{1,4-phenylene-[9,9-bis(4…
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Highly Cited
2005
Highly Cited
2005
Dielectric behavior and microstructure of (Bi1∕2Na1∕2)TiO3–(Bi1∕2K1∕2)TiO3–BaTiO3 lead-free piezoelectric ceramics
Xiaoxing Wang
,
S. H. Choy
,
X. Tang
,
H. Chan
2005
Corpus ID: 59066309
(0.95−x)(Bi1∕2Na1∕2)TiO3–x(Bi1∕2K1∕2)TiO3–0.05BaTiO3 lead-free piezoelectric ceramics (abbreviated as BNT–BKT–BT100x with x…
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Review
1994
Review
1994
3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms
P. Ozand
,
M. Rashed
,
+4 authors
J. Brismar
Brain & development (Tokyo. )
1994
Corpus ID: 4722122
Review
1994
Review
1994
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism
H. Worthen
,
A. Ashwal
,
+5 authors
M. Rashed
Brain & development (Tokyo. )
1994
Corpus ID: 4705749
1990
1990
3-Oxothiolase Activities and [14C]-2-Methylbutanoic Acid Incorporation in Cultured Fibroblasts from 13 Cases of Suspected 3-Oxothiolase Deficiency
P. Iden
,
B. Middleton
,
+4 authors
O. Søvik
Pediatric Research
1990
Corpus ID: 24871401
ABSTRACT: Cultured fibroblasts from 13 patients with organic aciduria suggesting 3-oxothiolase deficiency were studied by…
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1988
1988
New coherent states in periodic arrays of ultrasmall Josephson junctions.
Jacobs
,
José
,
Nóvotný
,
Goldman
Physical Review B (Condensed Matter)
1988
Corpus ID: 36216893
An extensive study of the thermodynamics of a two-dimensional periodic array of ultrasmall Josephson junctions with and without a…
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1984
1984
Simpler liquid-chromatographic screening for organic acid disorders.
M. Bennett
,
C. E. Bradey
Clinical Chemistry
1984
Corpus ID: 11699451
We describe an isocratic cation-exchange chromatographic technique, with ultraviolet detection, for determination of urinary…
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1979
1979
A VARIANT FORM OF 2‐METHYL‐3‐HYDROXYBUTYRIC AND 2‐METHYLACETOACETIC ACIDURIA
S. Halvorsen
,
O. Stokke
,
E. Jellum
Acta Paediatrica Scandinavica
1979
Corpus ID: 31618541
Abstract. A new case of assumed β‐ketothiolase deficiency, excreting 2‐methyl‐3‐hydroxybutyrate and tiglylglycine is described in…
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