Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias

1994 ◽  
Vol 17 (6) ◽  
pp. 645-651 ◽  
Author(s):  
P. Guldberg ◽  
H. L. Levy ◽  
R. Koch ◽  
C. M. Berlin ◽  
B. Francois ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1999 ◽  
Vol 135 (3) ◽  
pp. 375-378 ◽  
Author(s):  
Shigeo Kure ◽  
Dian-Chang Hou ◽  
Toshihiro Ohura ◽  
Hiroko Iwamoto ◽  
Shuhei Suzuki ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

scholarly journals Molecular characterization of phenylalanine hydroxylase deficiency in Chile

1999 ◽  
Vol 13 (6) ◽  
pp. 503-503 ◽  
Author(s):  
Bel�n P�rez ◽  
Lourdes R. Desviat ◽  
Marisel De Lucca ◽  
Veronica Cornejo ◽  
Erna Raimann ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

The Mutant Genotype Is the Main Determinant of the Metabolic Phenotype in Phenylalanine Hydroxylase Deficiency

1999 ◽  
Vol 68 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Paule Bénit ◽  
Françoise Rey ◽  
Félicienne Blandin-Savoja ◽  
Arnold Munnich ◽  
Véronique Abadie ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Metabolic Phenotype ◽  
Hydroxylase Deficiency ◽  
Mutant Genotype ◽  
Main Determinant

Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency

2018 ◽  
Vol 64 (2) ◽  
pp. 67-71
Author(s):  
Shigeo Kure ◽  
Haruo Shintaku
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

scholarly journals Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria

2018 ◽  
Vol 32 (1) ◽  
pp. 119-123 ◽  
Author(s):  
Mahsa Rastegar Moghadam ◽  
Azadeh Shojaei ◽  
Vahid Babaei ◽  
Farzaneh Rohani ◽  
Farideh Ghazi
Keyword(s):  
Mutation Analysis ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Iranian Patients

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

2001 ◽  
Vol 24 (3) ◽  
pp. 352-358 ◽  
Author(s):  
L. J. M. Spaapen ◽  
J. A. Bakker ◽  
C. Velter ◽  
W. Loots ◽  
M. E. Rubio-Gonzalbo ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

scholarly journals The molecular basis of phenylalanine hydroxylase deficiency in Croatia

2003 ◽  
Vol 21 (4) ◽  
pp. 399-399 ◽  
Author(s):  
Johannes Zschocke ◽  
Astrid Preusse ◽  
Vladimir Sarnavka ◽  
Ksenija Fumic ◽  
Du?ko Marde?ic ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency
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