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Neuropediatrics
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August 18, 2001
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency
M Baethmann, U Wendel, G F Hoffmann, 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.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia
G F Hoffmann, D H Hunneman, C Jakobs, et al.
Pediatric Research
|
December 1, 1992
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection
N Blau, C W Heizmann, W Sperl, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2007
Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach
M A Morath, J G Okun, I B Müller, et al.
Journal of Inherited Metabolic Disease
|
November 6, 2008
Qualitative urinary organic acid analysis: methodological approaches and performance
V Peters, S F Garbade, C D Langhans, et al.
Neuropediatrics
|
August 18, 2001
Atypical and variable clinical presentation of glutaric aciduria type I
D I Zafeiriou, J Zschocke, P Augoustidou-Savvopoulou, et al.
Pediatric Research
|
August 1, 1993
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency
C Hübner, G F Hoffmann, C Charpentier, et al.
Journal of Chromatography
|
July 23, 1993
Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population
G F Hoffmann, C K Seppel, B Holmes, et al.
Journal of Inherited Metabolic Disease
|
January 28, 2009
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up
C Manegold, G F Hoffmann, I Degen, et al.
Page
of 22
Search research articles
Search
Showing results (131-140 of 214) with videos related to
Sort By:
Page
of 22
Neuropediatrics
|
August 18, 2001
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency
M Baethmann, U Wendel, G F Hoffmann, 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.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia
G F Hoffmann, D H Hunneman, C Jakobs, et al.
Pediatric Research
|
December 1, 1992
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection
N Blau, C W Heizmann, W Sperl, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2007
Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach
M A Morath, J G Okun, I B Müller, et al.
Journal of Inherited Metabolic Disease
|
November 6, 2008
Qualitative urinary organic acid analysis: methodological approaches and performance
V Peters, S F Garbade, C D Langhans, et al.
Neuropediatrics
|
August 18, 2001
Atypical and variable clinical presentation of glutaric aciduria type I
D I Zafeiriou, J Zschocke, P Augoustidou-Savvopoulou, et al.
Pediatric Research
|
August 1, 1993
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency
C Hübner, G F Hoffmann, C Charpentier, et al.
Journal of Chromatography
|
July 23, 1993
Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population
G F Hoffmann, C K Seppel, B Holmes, et al.
Journal of Inherited Metabolic Disease
|
January 28, 2009
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up
C Manegold, G F Hoffmann, I Degen, et al.
Page
of 22