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Molecular Genetics and Metabolism
|
January 4, 2011
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening
M M C Wamelink, E A Struys, E E W Jansen, et al.
The Journal of Thoracic and Cardiovascular Surgery
|
December 31, 1998
A novel one-shot anastomotic stapler prototype for coronary bypass grafting on the beating heart: feasibility in the pig
R H Heijmen, P Hinchliffe, C Borst, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
June 25, 2005
Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC
Rita Castro, Isabel Rivera, Carla Martins, et al.
Journal of Inherited Metabolic Disease
|
January 9, 2009
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up
K Kusmierska, E E W Jansen, C Jakobs, et al.
Metabolic Brain Disease
|
January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review
Yoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Human Mutation
|
January 12, 2008
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
Mirjam M C Wamelink, Eduard A Struys, Erwin E W Jansen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 26, 2010
Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration
Verena Peters, Erwin E W Jansen, Cornelis Jakobs, et al.
Neurochemistry International
|
March 2, 2019
Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues
Dana C Walters, Erland Arning, Teodoro Bottiglieri, et al.
Journal of Inherited Metabolic Disease
|
April 30, 2019
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism
Madalyn N Brown, Dana C Walters, Michelle A Schmidt, et al.
Biochimica Et Biophysica Acta
|
August 25, 2009
Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD)
Kristen J Skvorak, Elizabeth J Hager, Erland Arning, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 83) with videos related to
Sort By:
Page
of 9
Molecular Genetics and Metabolism
|
January 4, 2011
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening
M M C Wamelink, E A Struys, E E W Jansen, et al.
The Journal of Thoracic and Cardiovascular Surgery
|
December 31, 1998
A novel one-shot anastomotic stapler prototype for coronary bypass grafting on the beating heart: feasibility in the pig
R H Heijmen, P Hinchliffe, C Borst, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
June 25, 2005
Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC
Rita Castro, Isabel Rivera, Carla Martins, et al.
Journal of Inherited Metabolic Disease
|
January 9, 2009
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up
K Kusmierska, E E W Jansen, C Jakobs, et al.
Metabolic Brain Disease
|
January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review
Yoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Human Mutation
|
January 12, 2008
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
Mirjam M C Wamelink, Eduard A Struys, Erwin E W Jansen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 26, 2010
Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration
Verena Peters, Erwin E W Jansen, Cornelis Jakobs, et al.
Neurochemistry International
|
March 2, 2019
Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues
Dana C Walters, Erland Arning, Teodoro Bottiglieri, et al.
Journal of Inherited Metabolic Disease
|
April 30, 2019
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism
Madalyn N Brown, Dana C Walters, Michelle A Schmidt, et al.
Biochimica Et Biophysica Acta
|
August 25, 2009
Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD)
Kristen J Skvorak, Elizabeth J Hager, Erland Arning, et al.
Page
of 9