Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy-Reference-Cited by-同舟云学术

Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

Published:2023-11 Issue:3 Volume:140 Page:107706
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Çıkı Kısmet,Yıldız Yılmaz,Kahraman Ayça Burcu,Özgül R. Köksal,Coşkun Turgay,Dursun Ali,Tokatlı Ayşegül,Sivri Serap

Publisher

Elsevier BV

Subject

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

Reference32 articles.

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2. Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments;Ashe;Front. Psychiatry,2019

3. The complete European guidelines on phenylketonuria: diagnosis and treatment;van Wegberg;Orphanet J. Rare Dis.,2017

4. S.A. Berry American College of Medical Genetics and Genomics Therapeutics Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline;Vockley;Genet. Med.,2014

5. Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias;Blau;Expert Opin. Drug Metab. Toxicol.,2013

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This;Children;2024-05-09

2. Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye;Journal of Pediatric Endocrinology and Metabolism;2024-05-07