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Prenatal Diagnosis
|
December 18, 2001
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes
C A Chisholm, F Vavelidis, M A Lovell, et al.
Human Molecular Genetics
|
July 1, 1996
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
L Dupuis, A Leon-Del-Rio, D Leclerc, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')
D Chitayat, J Chemke, K M Gibson, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
K M Gibson, L Sweetman, V Kozich, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 31, 1995
3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase
W Röschinger, D S Millington, D A Gage, et al.
Pediatrics
|
July 1, 1981
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment
B Wolf, Y E Hsia, L Sweetman, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 15, 1991
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection
G F Hoffmann, L Sweetman, H J Bremer, et al.
Enzyme
|
January 1, 1989
Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria
K M Gibson, J L Lohr, R L Broock, et al.
Journal of Lipid Research
|
March 1, 1990
3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium
K M Gibson, G Hoffmann, A Schwall, et al.
European Journal of Pediatrics
|
October 1, 1988
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal
K M Gibson, W L Nyhan, L Sweetman, et al.
Page
of 18
Search research articles
Search
Showing results (161-170 of 175) with videos related to
Sort By:
Page
of 18
Prenatal Diagnosis
|
December 18, 2001
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes
C A Chisholm, F Vavelidis, M A Lovell, et al.
Human Molecular Genetics
|
July 1, 1996
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
L Dupuis, A Leon-Del-Rio, D Leclerc, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')
D Chitayat, J Chemke, K M Gibson, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
K M Gibson, L Sweetman, V Kozich, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 31, 1995
3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase
W Röschinger, D S Millington, D A Gage, et al.
Pediatrics
|
July 1, 1981
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment
B Wolf, Y E Hsia, L Sweetman, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 15, 1991
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection
G F Hoffmann, L Sweetman, H J Bremer, et al.
Enzyme
|
January 1, 1989
Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria
K M Gibson, J L Lohr, R L Broock, et al.
Journal of Lipid Research
|
March 1, 1990
3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium
K M Gibson, G Hoffmann, A Schwall, et al.
European Journal of Pediatrics
|
October 1, 1988
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal
K M Gibson, W L Nyhan, L Sweetman, et al.
Page
of 18