The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness-Reference-Cited by-同舟云学术

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness

Published:2013 Issue: Volume: Page:55-65
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Ho Gladys,Alexander Ian,Bhattacharya Kaustuv,Dennison Barbara,Ellaway Carolyn,Thompson Sue,Wilcken Bridget,Christodoulou John

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2013_284

Reference56 articles.

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3. Aulehla-Scholz C, Heilbronner H (2003) Mutation spectrum in German patients with phenylalanine hydroxylase deficiency. Hum Mutat 21:399–400

4. Australian Bureau of Statistics (2012) Migration. Australian Bureau of Statistics, Canberra

5. Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL (1999) Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 104:375–381

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