Guide for diagnosis and treatment of hyperphenylalaninemia-Reference-Cited by-同舟云学术

Guide for diagnosis and treatment of hyperphenylalaninemia

Published:2021-01 Issue:1 Volume:63 Page:8-12
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Shintaku Haruo¹^ORCID,Ohura Toshihiro²,Takayanagi Masaki³,Kure Shigeo⁴,Owada Misao⁵,Matsubara Yoichi⁶,Yoshino Makoto⁷,Okano Yoshiyuki⁸,Ito Tetsuya⁹,Okuyama Torayuki¹⁰,Nakamura Kimitoshi¹¹^ORCID,Matuo Masafumi¹²,Endo Fumio¹³,Ida Hiroyuki¹⁴

Affiliation:

1. Department of Pediatrics Osaka City University Graduate School of Medicine OsakaJapan

2. Sendai City Hospital MiyagiJapan

3. Department of Physical Therapy Faculty of Health Care and Medical Sports Teikyo Heisei University TokyoJapan

4. Department of Pediatrics Tohoku University Graduate School of Medicine MiyagiJapan

5. First Division on Special Formula Imperial Gift Foundation Boshi Aiiku Kai TokyoJapan

6. National Center for Child Health and Development TokyoJapan

7. Laboratory of Gene Therapy and Regenerative Medicine Cognitive and Molecular Research Institute of Brain Diseases Kurume University FukuokaJapan

8. Okano Kodomo Clinic OsakaJapan

9. Department of Pediatrics Fujita Health University School of Medicine AichiJapan

10. Department of Clinical Laboratory Medicine National Center for Child Health and Development TokyoJapan

11. Department of Pediatrics Faculty of Life Science Kumamoto University KumamotoJapan

12. Graduate School of RehabilitationKobe Gakuin University HyogoJapan

13. Kumamoto Ezuko Medical Care Center kumamotoJapan

14. Department of Pediatrics The Jikei University Tokyo Japan

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.14399

Reference26 articles.

1. Disorders of Tetrahydrobiopterin Metabolism and their Treatment

2. Preliminary Communication

3. National Institutes of Health Consensus Development Panel.National Institutes of Health Consensus Development Conference Statement. Phenylketonuria: Screening and Management October 16–18 2000. Pediatrics 2001; 108: 972–982. 10.1542/peds.108.4.972.

4. Phenylketonuria Scientific Review Conference: State of the science and future research needs

5. Key European guidelines for the diagnosis and management of patients with phenylketonuria

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1. Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria;Molecular Genetics and Metabolism;2023-11

2. A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system;Molecular Genetics and Metabolism Reports;2023-06

3. The Utility of Genomic Testing for Hyperphenylalaninemia;Journal of Clinical Medicine;2022-02-18

4. Guides for tetrahydrobiopterin‐responsive hyperphenylalaninemia;Pediatrics International;2021-01