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Clinical Genetics
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April 1, 1992
Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase
M Wajner, M T Sanseverino, R Giugliani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 9, 1982
3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography
K M Gibson, L Sweetman, W L Nyhan, et al.
Journal of Chromatography
|
May 19, 1993
Use of a thick-film capillary column for the analysis of organic acids in body fluids
W Meier-Augenstein, G F Hoffmann, B Holmes, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance
K M Gibson, I Jansen, L Sweetman, et al.
Molecular Genetics and Metabolism
|
November 22, 2005
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts
D S Roe, B Z Yang, C Vianey-Saban, et al.
Lancet (London, England)
|
July 21, 1979
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity
M J Cowan, D W Wara, S Packman, et al.
Clinical Genetics
|
June 1, 1984
Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium
J Oizumi, W G Ng, R Koch, et al.
Pediatric Research
|
November 1, 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, B H Robinson, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1985
An evaluation of protein requirements in methylmalonic acidaemia
D Ney, C Bay, J M Saudubray, et al.
European Journal of Pediatrics
|
December 1, 1988
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria
K M Gibson, G Hoffmann, W L Nyhan, et al.
Page
of 18
Search research articles
Search
Showing results (131-140 of 175) with videos related to
Sort By:
Page
of 18
Clinical Genetics
|
April 1, 1992
Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase
M Wajner, M T Sanseverino, R Giugliani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 9, 1982
3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography
K M Gibson, L Sweetman, W L Nyhan, et al.
Journal of Chromatography
|
May 19, 1993
Use of a thick-film capillary column for the analysis of organic acids in body fluids
W Meier-Augenstein, G F Hoffmann, B Holmes, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance
K M Gibson, I Jansen, L Sweetman, et al.
Molecular Genetics and Metabolism
|
November 22, 2005
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts
D S Roe, B Z Yang, C Vianey-Saban, et al.
Lancet (London, England)
|
July 21, 1979
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity
M J Cowan, D W Wara, S Packman, et al.
Clinical Genetics
|
June 1, 1984
Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium
J Oizumi, W G Ng, R Koch, et al.
Pediatric Research
|
November 1, 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, B H Robinson, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1985
An evaluation of protein requirements in methylmalonic acidaemia
D Ney, C Bay, J M Saudubray, et al.
European Journal of Pediatrics
|
December 1, 1988
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria
K M Gibson, G Hoffmann, W L Nyhan, et al.
Page
of 18