Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy-Reference-Cited by-同舟云学术

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

Published:2022-12-19 Issue:2 Volume:6 Page:
ISSN:2398-9238
Container-title:Endocrinology, Diabetes & Metabolism
language:en
Short-container-title:Endocrino Diabet & Metabol

Author:

Rovelli Valentina¹^ORCID,Cefalo Graziella¹,Ercoli Vittoria¹,Zuvadelli Juri¹,Olivia Turri²,Graziani Daniela²,Luisella Alberti³,Bassi Davide¹^ORCID,Re Dionigi Alice¹,Selmi Raed¹,Paci Sabrina¹,Salvatici Elisabetta¹,Banderali Giuseppe¹

Affiliation:

1. Clinical Department of Pediatrics, Inborn Errors of Metabolism Unit, San Paolo Hospital, ASST Santi Paolo e Carlo University of Milan Milan Italy

2. Department of Laboratory Diagnostic Technologies San Paolo Hospital, ASST Santi Paolo e Carlo Milan Italy

3. Regional Laboratory of Newborn Screening, Department of Women, Mothers and Neonatal Care, Children's Hospital “V. Buzzi” ASST Fatebenefratelli Sacco Milan Italy

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/edm2.396

Reference34 articles.

1. Phenylketonuria: an inborn error of phenylalanine metabolism;Williams RA;Clin Biochem Rev,2008

2. Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)

3. Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness

4. The Genetic Landscape and Epidemiology of Phenylketonuria

Cited by 3 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. High‐Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations;Prenatal Diagnosis;2024-08-17

2. Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion);Molecular Genetics and Metabolism Reports;2024-06

3. Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis;Molecular Genetics and Metabolism Reports;2023-09