Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S-Reference-Cited by-同舟云学术

Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S

Published:2012 Issue: Volume: Page:49-58
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Djordjevic Maja,Klaassen Kristel,Sarajlija Adrijan,Tosic Natasa,Zukic Branka,Kecman Bozica,Ugrin Milena,Spasovski Vesna,Pavlovic Sonja,Stojiljkovic Maja

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2012_178

Reference43 articles.

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2. Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ (2009) Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab 96(4):158–163

3. Dipple KM, McCabe ER (2000) Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers and system dynamics. Am J Hum Genet 66:1729–1735

4. Dobrowolski SF, Heintz C, Miller T et al (2011) Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Mol Genet Metab 102(2):116–121

5. Eiken HG, Knappskog PM, Apold J (1993) Restriction enzyme-based assays for complete genotyping of phenylketonuria patients. Dev Brain Dysfunct 6:53–59

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