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Neurology
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October 25, 2006
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
S Köppel, J Gottschalk, G F Hoffmann, et al.
Pediatric Research
|
April 1, 1997
Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency
G F Hoffmann, U N Wiesmann, S Brendel, et al.
The Journal of Biological Chemistry
|
July 19, 1996
Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence
K L Chambliss, C A Slaughter, R Schreiner, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium
|
June 17, 2006
Giving them a good start: informatics support of newborn screening and clinical care
T Wetter, I Haschler, S Ho, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
|
April 1, 1997
Mevalonate kinase map position 12q24
K M Gibson, G F Hoffmann, R D Tanaka, et al.
Lancet (London, England)
|
February 25, 1999
Diagnosis of molybdenum cofactor deficiency
H A Simmonds, G F Hoffmann, J L Pérignon, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Physiology and pathophysiology of organic acids in cerebrospinal fluid
G F Hoffmann, W Meier-Augenstein, S Stöckler, et al.
Journal of Inherited Metabolic Disease
|
November 8, 2003
Towards quality assurance in the determination of lysosomal enzymes: a two-centre study
Z Lukacs, A Keil, V Peters, et al.
Biochemical and Biophysical Research Communications
|
February 17, 1998
Characterization of the mevalonate kinase 5'-untranslated region provides evidence for coordinate regulation of cholesterol biosynthesis
R W Bishop, K L Chambliss, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
January 7, 2004
Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy
J Pietz, T Lutz, K Zwygart, et al.
Page
of 22
Search research articles
Search
Showing results (101-110 of 214) with videos related to
Sort By:
Page
of 22
Neurology
|
October 25, 2006
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
S Köppel, J Gottschalk, G F Hoffmann, et al.
Pediatric Research
|
April 1, 1997
Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency
G F Hoffmann, U N Wiesmann, S Brendel, et al.
The Journal of Biological Chemistry
|
July 19, 1996
Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence
K L Chambliss, C A Slaughter, R Schreiner, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium
|
June 17, 2006
Giving them a good start: informatics support of newborn screening and clinical care
T Wetter, I Haschler, S Ho, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
|
April 1, 1997
Mevalonate kinase map position 12q24
K M Gibson, G F Hoffmann, R D Tanaka, et al.
Lancet (London, England)
|
February 25, 1999
Diagnosis of molybdenum cofactor deficiency
H A Simmonds, G F Hoffmann, J L Pérignon, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Physiology and pathophysiology of organic acids in cerebrospinal fluid
G F Hoffmann, W Meier-Augenstein, S Stöckler, et al.
Journal of Inherited Metabolic Disease
|
November 8, 2003
Towards quality assurance in the determination of lysosomal enzymes: a two-centre study
Z Lukacs, A Keil, V Peters, et al.
Biochemical and Biophysical Research Communications
|
February 17, 1998
Characterization of the mevalonate kinase 5'-untranslated region provides evidence for coordinate regulation of cholesterol biosynthesis
R W Bishop, K L Chambliss, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
January 7, 2004
Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy
J Pietz, T Lutz, K Zwygart, et al.
Page
of 22