5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics-Reference-Cited by-同舟云学术

5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics

Published:2020-03 Issue:3 Volume:129 Page:177-185
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Levy Harvey,Lamppu Diana,Anastosoaie Vera,Baker Jennifer L.,DiBona Kevin,Hawthorne Sarah,Lindenberger Jessica,Kinch Deborah,Seymour Albert,McIlduff Mark,Watling Sharon,Vockley Jerry

Funder

Homology Medicines, Inc

Publisher

Elsevier BV

Subject

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

Reference19 articles.

1. Phenylalanine hydroxylase deficiency: diagnosis and management guideline;Vockley;Genet. Med.,2014

2. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis;Waisbren;Mol. Genet. Metab.,2007

3. Phenylalanine hydroxylase deficiency;Regier,1993

4. Key European guidelines for the diagnosis and management of patients with phenylketonuria;van Spronsen;Lancet Diabetes Endocrinol.,2017

5. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU;Moyle;Neuropsychol. Rev.,2007

Cited by 15 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. Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?;Nutrients;2024-06-28

2. Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report;Nutrients;2023-08-17

3. Evaluation of a New ‘Mix-In’ Style Glycomacropeptide-Based Protein Substitute for Food and Drinks in Patients with Phenylketonuria and Tyrosinemia;Nutrients;2023-08-17

4. Recent Advances in Phenylketonuria: A Review;Cureus;2023-06-15

5. The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China;Human Genomics;2023-04-25