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Journal of Inherited Metabolic Disease
|
January 1, 1995
Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency
B Goebel-Schreiner, R Schreiner, G F Hoffmann, et al.
Clinical Chemistry
|
October 1, 1994
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS
M J Bennett, S Powell, D J Swartling, et al.
European Journal of Pediatrics
|
June 1, 1992
Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria
C Jakobs, T Michael, E Jaeger, et al.
IUBMB Life
|
October 6, 2005
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype
K M Gibson, C Jakobs, P L Pearl, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1987
3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction
M Dasouki, D Buchanan, N Mercer, et al.
Pharmacology, Biochemistry, and Behavior
|
December 8, 2004
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy
M A Cortez, Y Wu, K M Gibson, et al.
Journal of Inherited Metabolic Disease
|
September 22, 2007
Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice
A Latini, K Scussiato, G Leipnitz, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia
K M Gibson, A E Doskey, D Rabier, et al.
The Journal of Pediatrics
|
April 17, 1998
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children
K M Gibson, M J Bennett, E W Naylor, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Late-onset holocarboxylase synthetase deficiency
K M Gibson, M J Bennett, W L Nyhan, et al.
Page
of 19
Search research articles
Search
Showing results (41-50 of 187) with videos related to
Sort By:
Page
of 19
Journal of Inherited Metabolic Disease
|
January 1, 1995
Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency
B Goebel-Schreiner, R Schreiner, G F Hoffmann, et al.
Clinical Chemistry
|
October 1, 1994
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS
M J Bennett, S Powell, D J Swartling, et al.
European Journal of Pediatrics
|
June 1, 1992
Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria
C Jakobs, T Michael, E Jaeger, et al.
IUBMB Life
|
October 6, 2005
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype
K M Gibson, C Jakobs, P L Pearl, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1987
3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction
M Dasouki, D Buchanan, N Mercer, et al.
Pharmacology, Biochemistry, and Behavior
|
December 8, 2004
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy
M A Cortez, Y Wu, K M Gibson, et al.
Journal of Inherited Metabolic Disease
|
September 22, 2007
Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice
A Latini, K Scussiato, G Leipnitz, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia
K M Gibson, A E Doskey, D Rabier, et al.
The Journal of Pediatrics
|
April 17, 1998
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children
K M Gibson, M J Bennett, E W Naylor, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Late-onset holocarboxylase synthetase deficiency
K M Gibson, M J Bennett, W L Nyhan, et al.
Page
of 19