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Journal of Inherited Metabolic Disease
|
November 19, 2008
Quality of diagnostic mutation analyses for phenylketonuria
J Zschocke, C Aulehla-Scholz, S Patton
Journal of Inherited Metabolic Disease
|
March 28, 2002
Modelling the phenylalanine blood level response during treatment of phenylketonuria
U Langenbeck, J Zschocke, U Wendel, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2002
Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings
U Lässker, J Zschocke, N Blau, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
E Christensen, A Ribes, B Merinero, et al.
Archives of Disease in Childhood
|
June 29, 2002
Nature and nurture in vitamin B12 deficiency
J Zschocke, S Schindler, G F Hoffmann, et al.
Journal of Medical Genetics
|
March 4, 2000
Mutation analysis in glutaric aciduria type I
J Zschocke, E Quak, P Guldberg, et al.
Neurogenetics
|
January 19, 2005
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
B Janssen, C Hartmann, V Scholz, et al.
Journal of Inherited Metabolic Disease
|
July 18, 2009
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test
U Langenbeck, P Burgard, U Wendel, et al.
The Journal of Pediatrics
|
February 15, 2001
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene
S Kölker, V T Ramaekers, J Zschocke, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
November 28, 2001
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia
S Kasim, L R Moo, J Zschocke, et al.
Page
of 9
Search research articles
Search
Showing results (11-20 of 86) with videos related to
Sort By:
Page
of 9
Journal of Inherited Metabolic Disease
|
November 19, 2008
Quality of diagnostic mutation analyses for phenylketonuria
J Zschocke, C Aulehla-Scholz, S Patton
Journal of Inherited Metabolic Disease
|
March 28, 2002
Modelling the phenylalanine blood level response during treatment of phenylketonuria
U Langenbeck, J Zschocke, U Wendel, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2002
Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings
U Lässker, J Zschocke, N Blau, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
E Christensen, A Ribes, B Merinero, et al.
Archives of Disease in Childhood
|
June 29, 2002
Nature and nurture in vitamin B12 deficiency
J Zschocke, S Schindler, G F Hoffmann, et al.
Journal of Medical Genetics
|
March 4, 2000
Mutation analysis in glutaric aciduria type I
J Zschocke, E Quak, P Guldberg, et al.
Neurogenetics
|
January 19, 2005
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
B Janssen, C Hartmann, V Scholz, et al.
Journal of Inherited Metabolic Disease
|
July 18, 2009
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test
U Langenbeck, P Burgard, U Wendel, et al.
The Journal of Pediatrics
|
February 15, 2001
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene
S Kölker, V T Ramaekers, J Zschocke, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
November 28, 2001
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia
S Kasim, L R Moo, J Zschocke, et al.
Page
of 9