Results 71 to 80 of about 474 (133)

Pegvaliase treatment normalizes blood neurotransmitter metabolites in adults with phenylketonuria

Molecular Genetics and Metabolism
Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), the enzyme that converts phenylalanine (Phe) to tyrosine (Tyr), leading to a toxic accumulation of Phe and reduced Tyr in the blood and brain. Abnormal Phe and Tyr levels in the brain disrupt normal neurotransmitter biosynthesis and may contribute to the cognitive
Monika A, Sigg, Christopher, Wilson, Gillian E, Clague, Huiyu, Zhou, Cheng, Su, Geoffrey Y, Berguig   +5 more
openaire   +2 more sources

Assessment of intolerance of uncertainty, internalizing and externalizing symptoms in children and adolescents with PKU and depressive symptoms in their mothers [PDF]

, 2023
openLa fenilchetonuria (PKU) è una malattia autosomica recessiva rara che intacca il metabolismo dell’amminoacido fenilalanina (Phe) attraverso mutazioni genetiche dell’enzima fenilalanina idrossilasi (PAH).
FUREGATO, MARIA LUISA
core  

Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis [PDF]

The published data on the vitamin status of patients with phenylketonuria (PKU) is contradictory; therefore, this systematic review and meta-analysis evaluated the vitamin status of PKU patients.
Dariusz Walkowiak, Karl-Heinz Herzig, Walkowiak, Jarosław, Małgorzata Jamka, Monika Duś-Żuchowska, Bokayeva, Kamila, Walkowiak, Dariusz, Jarosław Walkowiak, Herzig, Karl-Heinz, Jamka, Małgorzata, Duś-Żuchowska, Monika, Kamila Bokayeva   +11 more
core   +1 more source

Genotype–Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up

Background: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired amino acid metabolism.
Michele Vecchio, Annamaria Sapuppo, Martino Ruggieri, Andrea Domenico Praticò, Luisa La Spina, Marianna Messina, Alessia Arena, Maria Chiara Consentino, Agata Polizzi, Manuela Lo Bianco, Riccardo Iacobacci, Concetta Meli, Maria Grazia Pappalardo   +12 more
core   +1 more source

Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.

Molecular Genetics and Metabolism Reports, 2021
Johannes Krämer
doaj   +1 more source

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

Molecular Genetics and Metabolism Reports, 2020
Fran Rohr, Amy Kritzer, Cary O. Harding, Krista Viau, Harvey L. Levy   +4 more
doaj   +1 more source

Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review. [PDF]

Nutrients
Jones H, Strehle EM.
europepmc   +1 more source

Possibilidades no tratamento da fenilcetonúria

A Fenilcetonúria é uma doença metabólica decorrente da deficiência da enzima fenilalanina-hidroxilase, a qual faz a conversão de fenilalanina em tirosina.
Carrijo, Karlos Alexandre Vargas, Costa, Waiton Alves da, Ribeiro, Kamila Alves, Duarte, Karine Watanabe de Brito, Paula, Thalita Sabina de   +4 more
core  

Prescription Drugs Subject to a Risk Evaluation and Mitigation Strategy: Patient Perspectives on Risk Communication and the Value of Educational Materials. [PDF]

Drug Saf
Chimonas S, Cosenza C, Kesselheim AS, Toyserkani GA, Oswell KH, LaCivita C, Dal Pan GJ, Sarpatwari A.   +7 more
europepmc   +1 more source

Phenylalanine homeostasis in metabolic disorders: epidemiological trends, pathophysiological mechanisms, and clinical treatment. [PDF]

Front Endocrinol (Lausanne)
Chen Y, Lu S, Li C, Li Y, Qin C, He Y, Niu Y, Sun Q.   +7 more
europepmc   +1 more source