Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods-Reference-Cited by-同舟云学术

Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods

Published:2020 Issue: Volume:8 Page:
ISSN:2326-4594
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:
Short-container-title:J. inborn errors metab. screen.

Author:

Sebastião Fernanda Medeiros¹^ORCID,Burin Maira Graeff²,Civallero Gabriel²,Tirelli Kristiane Michelin²,Sitta Angela²,Coelho Daniella de Moura²,Vargas Carmen Regla²,Wajner Moacir²,Giugliani Roberto²,Bitencourt Fernanda Hendges de³,Schwartz Ida Vanessa Doederlein⁴

Affiliation:

1. Universidade Federal do Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre, Brazil

2. Hospital de Clínicas de Porto Alegre, Brazil

3. Hospital de Clínicas de Porto Alegre, Brazil; Hospital de Clínicas de Porto Alegre, Brazil

4. Universidade Federal do Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre, Brazil; Hospital de Clínicas de Porto Alegre, Brazil; Universidade Federal do Rio Grande do Sul, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

http://www.scielo.br/pdf/jiems/v8/2326-4594-jiems-8-e20190011.pdf

Reference21 articles.

1. The PAH Gene. Phenylketonuria and a Paradigm Shift;Scriver CR;Hum Mutat,2007

2. Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency;Blau N;Expert Rev Endocrinol Metab,2010

3. Genetics of Phenylketonuria: Then and Now Then;Blau N;Hum Mutat,2016

4. The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients;Bartus A;Metab Brain Dis,2018

5. The Metabolic and Molecular Bases of Inherited Disease;Donlon J,2019

Cited by 2 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. Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria;International Journal of Molecular Sciences;2023-01-27

2. Review of the Use of Liquid Chromatography-Tandem Mass Spectrometry in Clinical Laboratories: Part II–Operations;Annals of Laboratory Medicine;2022-09-01