The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review-Reference-Cited by-同舟云学术

The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

Published:2019-03 Issue:2 Volume:42 Page:209-219
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Burlina Alessandro P.¹,Lachmann Robin H.²,Manara Renzo³,Cazzorla Chiara⁴,Celato Andrea⁴,van Spronsen Francjan J.⁵,Burlina Alberto⁴

Affiliation:

1. Neurological UnitSt. Bassiano Hospital Bassano del Grappa Italy

2. Charles Dent Metabolic UnitNational Hospital for Neurology and Neurosurgery London UK

3. Department of Medicine and SurgeryUniversity of Salerno Salerno Italy

4. Division of Inborn Metabolic Diseases, Department of PaediatricsUniversity Hospital Padua Italy

5. Division of Metabolic Diseases, Beatrix Children's HospitalUniversity Medical Center of Groningen, University of Groningen Groningen The Netherlands

Funder

Merck

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12065

Reference97 articles.

1. Adults with untreated phenylketonuria: out of sight, out of mind

2. Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet

3. Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?

4. Improvements in behaviour and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine-restricted diet: a national survey

5. Phenylketonuria

Cited by 44 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. Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup;Molecular Genetics and Metabolism;2024-09

2. Unraveling the Molecular Mechanisms of the Neurodevelopmental Consequences of Fetal Protein Deficiency: Insights From Rodent Models and Public Health Implications;Biological Psychiatry Global Open Science;2024-09

3. A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria;Journal of Inherited Metabolic Disease;2024-02-23

4. Increased peripheral of brain-derived neurotrophic factor levels in phenylketonuric patients treated with l-carnitine;Archives of Biochemistry and Biophysics;2023-11

5. Health-related quality of life in a european sample of adults with early-treated classical PKU;Orphanet Journal of Rare Diseases;2023-09-22