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Biochemical Medicine and Metabolic Biology
|
February 1, 1992
Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications
J Vockley, C M Vockley, S P Lin, et al.
Genomics
|
November 15, 1994
Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family
R Rozen, J Vockley, L Zhou, et al.
Biochemistry
|
July 17, 1998
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia
A W Mohsen, B D Anderson, S L Volchenboum, et al.
American Journal of Medical Genetics. Part A
|
March 31, 2007
Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events
M Sathanoori, J Hu, V Murthy, et al.
The Journal of Pediatrics
|
August 10, 2000
Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study
E P Treacy, D M Lambert, R Barnes, et al.
The Journal of Pediatrics
|
December 10, 1999
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
D Babovic-Vuksanovic, M C Patterson, W F Schwenk, et al.
American Journal of Human Genetics
|
June 15, 2007
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
M He, S L Rutledge, D R Kelly, et al.
Molecular Genetics and Metabolism
|
April 11, 2025
Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol
M M Crenshaw, O M D'Annibale, A Schechter, et al.
Pediatric Transplantation
|
October 16, 2010
Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series
D A Shellmer, A DeVito Dabbs, M A Dew, et al.
Clinical Chemistry
|
April 2, 1999
Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study
S H Moolenaar, J Poggi-Bach, U F Engelke, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 62) with videos related to
Sort By:
Page
of 7
Biochemical Medicine and Metabolic Biology
|
February 1, 1992
Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications
J Vockley, C M Vockley, S P Lin, et al.
Genomics
|
November 15, 1994
Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family
R Rozen, J Vockley, L Zhou, et al.
Biochemistry
|
July 17, 1998
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia
A W Mohsen, B D Anderson, S L Volchenboum, et al.
American Journal of Medical Genetics. Part A
|
March 31, 2007
Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events
M Sathanoori, J Hu, V Murthy, et al.
The Journal of Pediatrics
|
August 10, 2000
Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study
E P Treacy, D M Lambert, R Barnes, et al.
The Journal of Pediatrics
|
December 10, 1999
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
D Babovic-Vuksanovic, M C Patterson, W F Schwenk, et al.
American Journal of Human Genetics
|
June 15, 2007
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
M He, S L Rutledge, D R Kelly, et al.
Molecular Genetics and Metabolism
|
April 11, 2025
Newborn screening follow-up for very long-chain acyl-CoA dehydrogenase deficiency in Colorado: Working towards a standardized protocol
M M Crenshaw, O M D'Annibale, A Schechter, et al.
Pediatric Transplantation
|
October 16, 2010
Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series
D A Shellmer, A DeVito Dabbs, M A Dew, et al.
Clinical Chemistry
|
April 2, 1999
Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study
S H Moolenaar, J Poggi-Bach, U F Engelke, et al.
Page
of 7