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Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|
March 9, 2006
[Inflammatory stage of incontinentia pigmenti (Bloch-Sulzberger syndrome)]
A-K Kortüm, A S Büchau, B Assmann, et al.
Neuropediatrics
|
March 1, 2002
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations
B Assmann, R Hackler, V Peters, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency
S Kölker, P Burgard, J G Okun, 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.
Journal of Inherited Metabolic Disease
|
July 18, 2002
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy
V Prietsch, V Peters, R Hackler, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 22, 2000
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features
M Köhler, B Assmann, C Bräutigam, et al.
Journal of Neuroscience Research
|
December 18, 2001
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis
S Kölker, J G Okun, F Hörster, et al.
Journal of Inherited Metabolic Disease
|
November 5, 1997
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?
B Assmann, G F Hoffmann, L Wagner, et al.
Neuropediatrics
|
April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy
V Peters, J M Penzien, G Reiter, 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.
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Search research articles
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
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Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|
March 9, 2006
[Inflammatory stage of incontinentia pigmenti (Bloch-Sulzberger syndrome)]
A-K Kortüm, A S Büchau, B Assmann, et al.
Neuropediatrics
|
March 1, 2002
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations
B Assmann, R Hackler, V Peters, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency
S Kölker, P Burgard, J G Okun, 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.
Journal of Inherited Metabolic Disease
|
July 18, 2002
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy
V Prietsch, V Peters, R Hackler, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 22, 2000
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features
M Köhler, B Assmann, C Bräutigam, et al.
Journal of Neuroscience Research
|
December 18, 2001
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis
S Kölker, J G Okun, F Hörster, et al.
Journal of Inherited Metabolic Disease
|
November 5, 1997
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?
B Assmann, G F Hoffmann, L Wagner, et al.
Neuropediatrics
|
April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy
V Peters, J M Penzien, G Reiter, 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.
Page
of 3