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Neurology
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September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
S B Wortmann, B H Kremer, A Graham, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment
I J J Muffels, K A Kantautas, G MacDonald, et al.
Biochimica Et Biophysica Acta
|
March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
M Mohamed, M Guillard, S B Wortmann, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2008
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres
T Zwickler, M Lindner, H I Aydin, et al.
Molecular Genetics and Metabolism
|
July 24, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients
C E M Hollak, E S V de Sonnaville, D Cassiman, et al.
Journal of Inherited Metabolic Disease
|
July 31, 2009
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
F Hörster, S F Garbade, T Zwickler, et al.
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of 10
Search research articles
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Showing results (91-100 of 96) with videos related to
Sort By:
Page
of 10
You have reached the last page of results.
This site can display upto 96 results.
Neurology
|
September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
S B Wortmann, B H Kremer, A Graham, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment
I J J Muffels, K A Kantautas, G MacDonald, et al.
Biochimica Et Biophysica Acta
|
March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
M Mohamed, M Guillard, S B Wortmann, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2008
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres
T Zwickler, M Lindner, H I Aydin, et al.
Molecular Genetics and Metabolism
|
July 24, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients
C E M Hollak, E S V de Sonnaville, D Cassiman, et al.
Journal of Inherited Metabolic Disease
|
July 31, 2009
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
F Hörster, S F Garbade, T Zwickler, et al.
Page
of 10