Search research articles
Contact Us
Filters
Showing results (151-160 of 214) with videos related to
Page
of 22
Sort By:
Neuroradiology
|
March 20, 2016
MRI and (1)H-MRS in adenosine kinase deficiency
C Staufner, H J Blom, C Dionisi-Vici, et al.
Advances in Experimental Medicine and Biology
|
January 11, 2002
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency
A B van Kuilenburg, H van Lenthe, G G Ratmann, et al.
Pediatric Research
|
September 1, 1993
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias
K M Gibson, H J ten Brink, D S Schor, et al.
Journal of Inherited Metabolic Disease
|
July 13, 2004
Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency
N I Wolf, D Haas, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
C Mühlhausen, G F Hoffmann, K A Strauss, et al.
American Journal of Medical Genetics
|
August 26, 1998
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency
D D Hinson, Z R Rogers, G F Hoffmann, et al.
Pediatrics
|
May 1, 1993
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
G F Hoffmann, C Charpentier, E Mayatepek, et al.
Journal of Inherited Metabolic Disease
|
June 9, 2009
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria
D Haas, P Niklowitz, F Hörster, et al.
Journal of Inherited Metabolic Disease
|
August 18, 2009
Mental retardation and inborn errors of metabolism
A García-Cazorla, N I Wolf, M Serrano, et al.
Journal of Inherited Metabolic Disease
|
May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
D Haas, S F Garbade, C Vohwinkel, et al.
Page
of 22
Search research articles
Search
Showing results (151-160 of 214) with videos related to
Sort By:
Page
of 22
Neuroradiology
|
March 20, 2016
MRI and (1)H-MRS in adenosine kinase deficiency
C Staufner, H J Blom, C Dionisi-Vici, et al.
Advances in Experimental Medicine and Biology
|
January 11, 2002
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency
A B van Kuilenburg, H van Lenthe, G G Ratmann, et al.
Pediatric Research
|
September 1, 1993
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias
K M Gibson, H J ten Brink, D S Schor, et al.
Journal of Inherited Metabolic Disease
|
July 13, 2004
Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency
N I Wolf, D Haas, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
C Mühlhausen, G F Hoffmann, K A Strauss, et al.
American Journal of Medical Genetics
|
August 26, 1998
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency
D D Hinson, Z R Rogers, G F Hoffmann, et al.
Pediatrics
|
May 1, 1993
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
G F Hoffmann, C Charpentier, E Mayatepek, et al.
Journal of Inherited Metabolic Disease
|
June 9, 2009
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria
D Haas, P Niklowitz, F Hörster, et al.
Journal of Inherited Metabolic Disease
|
August 18, 2009
Mental retardation and inborn errors of metabolism
A García-Cazorla, N I Wolf, M Serrano, et al.
Journal of Inherited Metabolic Disease
|
May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
D Haas, S F Garbade, C Vohwinkel, et al.
Page
of 22