New protein structures provide an updated understanding of phenylketonuria-Reference-Cited by-同舟云学术

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New protein structures provide an updated understanding of phenylketonuria

Published:2017-08 Issue:4 Volume:121 Page:289-296
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Jaffe Eileen K.

Funder

Developmental Therapeutics Program

Pennsylvania Tobacco Settlement Fund (CURE)

BioMarin Pharmaceuticals

National PKU Alliance

National Institutes of Health

Publisher

Elsevier BV

Subject

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

Reference71 articles.

1. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency;Singh;Genet. Med.,2014

2. Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria;Jahja;J. Pediatr.,2014

3. National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI)

4. Phenylketonuria scientific review conference: state of the science and future research needs;Camp;Mol. Genet. Metab.,2014

5. Phenylketonuria management from an European perspective: a commentary;van Spronsen;Mol. Genet. Metab.,2010

Cited by 28 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. Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy;Endocrinology, Diabetes & Metabolism;2022-12-19

2. Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants;Scientific Reports;2022-08-20

3. Development of an mRNA replacement therapy for phenylketonuria;Molecular Therapy - Nucleic Acids;2022-06

4. Deubiquitinase USP19 enhances phenylalanine hydroxylase protein stability and its enzymatic activity;Cell Biology and Toxicology;2022-04-21

5. Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria;Molecular Genetics and Metabolism;2022-03

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