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Human Mutation
|
April 29, 1999
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
T Scherer-Oppliger, A Matasovic, S Laufs, et al.
Advances in Experimental Medicine and Biology
|
January 1, 1993
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia
I T de Almeida, P P Leandro, R Portela, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Primapterinuria: a new variant of atypical phenylketonuria
N Blau, H C Curtius, T Kuster, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Prenatal diagnosis of atypical phenylketonuria
N Blau, A Niederwieser, H C Curtius, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 14) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 14 results.
Human Mutation
|
April 29, 1999
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
T Scherer-Oppliger, A Matasovic, S Laufs, et al.
Advances in Experimental Medicine and Biology
|
January 1, 1993
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia
I T de Almeida, P P Leandro, R Portela, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Primapterinuria: a new variant of atypical phenylketonuria
N Blau, H C Curtius, T Kuster, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Prenatal diagnosis of atypical phenylketonuria
N Blau, A Niederwieser, H C Curtius, et al.
Page
of 2