Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria-Reference-Cited by-同舟云学术

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Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria

Published:2021-05 Issue:1 Volume:133 Page:49-55
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

van Wegberg AMJ,Evers RAF,Burgerhof JGM,van Dam E,Heiner-Fokkema M.R.,Janssen MCH,de Vries MC,van Spronsen FJ

Funder

BioMarin Pharmaceutical Inc

Publisher

Elsevier BV

Subject

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

Reference32 articles.

1. Phenylketonuria;Blau;Lancet,2010

2. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence;Enns;Mol. Genet. Metab.,2010

3. Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis;de Groot;Orphanet J. Rare Dis.,2013

4. Phenylketonuria: high plasma phenylalanine decreases cerebral protein synthesis;Hoeksma;Mol. Genet. Metab.,2009

5. Blood-brain barrier transport of amino acids in healthy controls and in patients with phenylketonuria;Knudsen;J. Inherit. Metab. Dis.,1995

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1. The value of simultaneous determination of blood large neutral amino acids and tetrahydrobiopterin metabolites in the diagnosis of atypical hyperphenylalaninemia;Egyptian Liver Journal;2024-01-17

2. GTP cyclohydroxylase1 (GCH1): Role in neurodegenerative diseases;Gene;2023-12

3. Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2023-09

4. Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria;Clinical and Experimental Pediatrics;2022-11-01

5. Exploring the Mystery of the Tetrahydrobiopterin Synthetic Defect Lethal Mutant leml from Birth to Death in the Silkworm Bombyx mori;International Journal of Molecular Sciences;2022-10-11

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