Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms-Reference-Cited by-同舟云学术

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms

Published:2008-05 Issue:1 Volume:94 Page:127-131
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Horvath Gabriella A.,Stockler-Ipsiroglu Sylvia G.,Salvarinova-Zivkovic Ramona,Lillquist Yolanda P.,Connolly Mary,Hyland Keith,Blau Nenad,Rupar Tony,Waters Paula J.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. Disorders of tetrahydrobiopterin and related biogenic amines;Blau,2001

2. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency;Scriver,2001

3. A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program;Blau;J. Pediatr.,1995

4. Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation;Hwu;Hum. Genet.,1999

5. Neonatal Dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency;Nardocci;Neurology,2003

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