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European Journal of Dermatology : EJD
|
May 19, 2001
Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I
S Niiyama, S Koelker, I Degen, et al.
Neuropediatrics
|
May 1, 1999
A severely affected infant with absence of cysteinyl leukotrienes in cerebrospinal fluid: further evidence that leukotriene C4-synthesis deficiency is a new neurometabolic disorder
E Mayatepek, M Lindner, R Zelezny, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism
E Mayatepek, R Zelezny, W D Lehmann, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria
E Mayatepek, R J Wanders, M Becker, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2008
Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination
M Lindner, S Ho, S Kölker, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis
J Zschocke, E Quak, A Knauer, et al.
Klinische Padiatrie
|
March 1, 1993
[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]
R Voll, G F Hoffmann, C G Lipinski, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options
A P Burlina, G Zara, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
December 22, 1999
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I
I Baric, L Wagner, P Feyh, et al.
Neuropediatrics
|
April 29, 1998
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism
K M Gibson, G F Hoffmann, A K Hodson, et al.
Page
of 22
Search research articles
Search
Showing results (81-90 of 214) with videos related to
Sort By:
Page
of 22
European Journal of Dermatology : EJD
|
May 19, 2001
Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I
S Niiyama, S Koelker, I Degen, et al.
Neuropediatrics
|
May 1, 1999
A severely affected infant with absence of cysteinyl leukotrienes in cerebrospinal fluid: further evidence that leukotriene C4-synthesis deficiency is a new neurometabolic disorder
E Mayatepek, M Lindner, R Zelezny, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism
E Mayatepek, R Zelezny, W D Lehmann, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria
E Mayatepek, R J Wanders, M Becker, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2008
Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination
M Lindner, S Ho, S Kölker, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis
J Zschocke, E Quak, A Knauer, et al.
Klinische Padiatrie
|
March 1, 1993
[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]
R Voll, G F Hoffmann, C G Lipinski, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options
A P Burlina, G Zara, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
December 22, 1999
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I
I Baric, L Wagner, P Feyh, et al.
Neuropediatrics
|
April 29, 1998
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism
K M Gibson, G F Hoffmann, A K Hodson, et al.
Page
of 22