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Journal of Inherited Metabolic Disease
|
July 15, 2000
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency
N G Abeling, C Bräutigam, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
January 24, 2002
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level
A B Van Kuilenburg, H Van Lenthe, B Assmann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 15, 2013
Alpha-fetoprotein, a fascinating protein and biomarker in neurology
J H Schieving, M de Vries, J M G van Vugt, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Paediatric cerebrotendinous xanthomatosis
R A Wevers, J R Cruysberg, A F Van Heijst, et al.
The Journal of Pediatrics
|
February 7, 2001
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy
C Dionisi-Vici, G F Hoffmann, V Leuzzi, et al.
Clinical Neuropathology
|
November 16, 2010
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis
D Wallon, L Guyant-Maréchal, A Laquerrière, et al.
Clinical Neuropathology
|
February 24, 2010
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
N C Voermans, M Guillard, R Doedée, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism
R A Wevers, U Engelke, J J Rotteveel, et al.
The Netherlands Journal of Medicine
|
June 23, 2000
Normal carnitine levels in patients with chronic fatigue syndrome
P M Soetekouw, R A Wevers, P Vreken, et al.
Radiology
|
December 9, 2000
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings
F Barkhof, A Verrips, P Wesseling, et al.
Page
of 23
Search research articles
Search
Showing results (141-150 of 222) with videos related to
Sort By:
Page
of 23
Journal of Inherited Metabolic Disease
|
July 15, 2000
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency
N G Abeling, C Bräutigam, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
January 24, 2002
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level
A B Van Kuilenburg, H Van Lenthe, B Assmann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 15, 2013
Alpha-fetoprotein, a fascinating protein and biomarker in neurology
J H Schieving, M de Vries, J M G van Vugt, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1992
Paediatric cerebrotendinous xanthomatosis
R A Wevers, J R Cruysberg, A F Van Heijst, et al.
The Journal of Pediatrics
|
February 7, 2001
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy
C Dionisi-Vici, G F Hoffmann, V Leuzzi, et al.
Clinical Neuropathology
|
November 16, 2010
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis
D Wallon, L Guyant-Maréchal, A Laquerrière, et al.
Clinical Neuropathology
|
February 24, 2010
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
N C Voermans, M Guillard, R Doedée, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism
R A Wevers, U Engelke, J J Rotteveel, et al.
The Netherlands Journal of Medicine
|
June 23, 2000
Normal carnitine levels in patients with chronic fatigue syndrome
P M Soetekouw, R A Wevers, P Vreken, et al.
Radiology
|
December 9, 2000
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings
F Barkhof, A Verrips, P Wesseling, et al.
Page
of 23