Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark-Reference-Cited by-同舟云学术

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Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

Published:2015-12-12 Issue:3 Volume:90 Page:247-251
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Bayat A.¹²,Yasmeen S.¹,Lund A.³,Nielsen J.B.¹,Møller L.B.⁴

Affiliation:

1. Clinical Genetic Clinic, Kennedy Center; Copenhagen University Hospital; Glostrup Denmark

2. Department of Pediatrics Hvidovre Hospital Kettegård Alle 30; 2650 Hvidovre Denmark

3. Clinical Genetic Clinic, Centre for Inherited Metabolic Diseases; Copenhagen University Hospital; Copenhagen Denmark

4. Department of Science, Systems and Models (NSM); Roskilde University; DK 4000 Roskilde Denmark

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. Whatever happened to PKU?;Scriver;Clin Biochem,1995

2. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype;Guldberg;Am J Hum Genet,1998

3. PAHdb: a locus-specific knowledgebase;Scriver;Hum Mutat,2000

4. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the maternal phenylketonuria collaborative study;Guttler;Pediatrics,1999

5. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm;Kumar;Nat Protoc,2009

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1. Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis;Molecules;2023-06-22

2. The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria;Journal of Inherited Metabolic Disease;2023-03-06

3. Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology;Bioscience Reports;2021-02

4. Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing;PLOS ONE;2021-01-25

5. Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China;Scientific Reports;2018-11-20

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