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Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
November 1, 1991
[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)]
F K Trefz, G F Hoffmann, E Mayatepek, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele
N Gregersen, V Winter, S Lyonnet, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2006
Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouse
M Liebig, M Gyenes, G Brauers, et al.
Journal of Inherited Metabolic Disease
|
January 29, 2013
Structural white matter changes in adolescents and young adults with maple syrup urine disease
D Klee, E Thimm, H J Wittsack, et al.
Biochimica Et Biophysica Acta
|
October 19, 1999
beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain
S Grünewald, K Huyben, J G de Jong, et al.
European Journal of Human Genetics : EJHG
|
September 14, 1999
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
M Veiga-da-Cunha, I Gerin, Y T Chen, et al.
Neuropediatrics
|
September 26, 2001
Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation
E J Okhuijsen-Kroes, J M Trijbels, R C Sengers, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Liver transplantation in two cases of propionic acidaemia
J S Schlenzig, F Poggi-Travert, J Laurent, et al.
Journal of the Neurological Sciences
|
July 1, 1997
Clinical heterogeneity in respiratory chain complex III deficiency in childhood
J Mourmans, U Wendel, H A Bentlage, et al.
Pediatric Research
|
May 1, 1996
Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy
M Huizing, W Ruitenbeek, F P Thinnes, et al.
Page
of 19
Search research articles
Search
Showing results (171-180 of 186) with videos related to
Sort By:
Page
of 19
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
November 1, 1991
[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)]
F K Trefz, G F Hoffmann, E Mayatepek, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele
N Gregersen, V Winter, S Lyonnet, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2006
Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouse
M Liebig, M Gyenes, G Brauers, et al.
Journal of Inherited Metabolic Disease
|
January 29, 2013
Structural white matter changes in adolescents and young adults with maple syrup urine disease
D Klee, E Thimm, H J Wittsack, et al.
Biochimica Et Biophysica Acta
|
October 19, 1999
beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain
S Grünewald, K Huyben, J G de Jong, et al.
European Journal of Human Genetics : EJHG
|
September 14, 1999
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
M Veiga-da-Cunha, I Gerin, Y T Chen, et al.
Neuropediatrics
|
September 26, 2001
Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation
E J Okhuijsen-Kroes, J M Trijbels, R C Sengers, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Liver transplantation in two cases of propionic acidaemia
J S Schlenzig, F Poggi-Travert, J Laurent, et al.
Journal of the Neurological Sciences
|
July 1, 1997
Clinical heterogeneity in respiratory chain complex III deficiency in childhood
J Mourmans, U Wendel, H A Bentlage, et al.
Pediatric Research
|
May 1, 1996
Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy
M Huizing, W Ruitenbeek, F P Thinnes, et al.
Page
of 19