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Journal of Inherited Metabolic Disease
|
June 29, 1999
Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency
N G Abeling, A H van Gennip, H Blom, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2008
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps
E Morava, H Wosik, J Kárteszi, et al.
Annals of Human Genetics
|
August 14, 2003
Smith-Lemli-Opitz syndrome and the DHCR7 gene
P E Jira, H R Waterham, R J A Wanders, 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 the Neurological Sciences
|
February 1, 1987
Intravenous pyruvate loading test in Leigh syndrome
P M Van Erven, F J Gabreëls, R A Wevers, et al.
Neuroradiology
|
September 10, 2005
Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge. Diagnosis with diffusion-weighted MRI leading to treatment with corticosteroids
Philippe G Jorens, Paul M Parizel, Hendrik E Demey, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 15, 1985
Reference values of blood components related to fuel metabolism in children after an overnight fast
K J Lamers, W H Doesburg, F J Gabreëls, et al.
Muscle & Nerve
|
April 1, 1988
Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families
S P Sinkeler, E M Joosten, R A Wevers, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 14, 1987
CSF concentration and CSF/blood ratio of fuel related components in children after prolonged fasting
K J Lamers, W H Doesburg, F J Gabreëls, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 15, 1983
Immunological measurements on the disappearance of creatine kinase MM from the circulation
R A Wevers, A A van Landeghem, M W Mul-Steinbusch, et al.
Page
of 23
Search research articles
Search
Showing results (111-120 of 222) with videos related to
Sort By:
Page
of 23
Journal of Inherited Metabolic Disease
|
June 29, 1999
Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency
N G Abeling, A H van Gennip, H Blom, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2008
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps
E Morava, H Wosik, J Kárteszi, et al.
Annals of Human Genetics
|
August 14, 2003
Smith-Lemli-Opitz syndrome and the DHCR7 gene
P E Jira, H R Waterham, R J A Wanders, 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 the Neurological Sciences
|
February 1, 1987
Intravenous pyruvate loading test in Leigh syndrome
P M Van Erven, F J Gabreëls, R A Wevers, et al.
Neuroradiology
|
September 10, 2005
Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge. Diagnosis with diffusion-weighted MRI leading to treatment with corticosteroids
Philippe G Jorens, Paul M Parizel, Hendrik E Demey, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 15, 1985
Reference values of blood components related to fuel metabolism in children after an overnight fast
K J Lamers, W H Doesburg, F J Gabreëls, et al.
Muscle & Nerve
|
April 1, 1988
Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families
S P Sinkeler, E M Joosten, R A Wevers, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 14, 1987
CSF concentration and CSF/blood ratio of fuel related components in children after prolonged fasting
K J Lamers, W H Doesburg, F J Gabreëls, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 15, 1983
Immunological measurements on the disappearance of creatine kinase MM from the circulation
R A Wevers, A A van Landeghem, M W Mul-Steinbusch, et al.
Page
of 23