Results 71 to 80 of about 1,551 (187)

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Background Phenylketonuria (PKU) is caused by phenylalanine hydroxylase deficiency. Treatment is primarily a low‐Phe diet combined with l‐amino acid‐based products (l‐AA). Protein requirements in adults with PKU have not been directly determined.
Abrar Turki, Sylvia Stockler‐Ipsiroglu, Sandra Sirrs, Jennifer Branov, Taryn Bosdet, Rajavel Elango   +5 more
wiley   +1 more source

Additional file 1 of Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at

, 2021
Additional file 1: Table S1. Status at the end of the extension period—ITTE population.
Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S., Lane, Paul, Alvarez, Ignacio, Rutsch, Frank   +12 more
openaire   +1 more source

Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Alterations in brain structure are frequently observed in adults with early‐treated phenylketonuria (PKU) compared to healthy controls, with cerebral white matter (WM) being particularly affected. The extent to which temporary elevation of phenylalanine (Phe) levels impacts WM remains unclear.
Raphaela Muri, Murray Bruce Reed, Stephanie Maissen‐Abgottspon, Roland Kreis, Michel Hochuli, Rupert Lanzenberger, Roman Trepp, Regula Everts   +7 more
wiley   +1 more source

Characterization of Sapropterin Dihydrochloride Tablet

Journal of Drug Delivery and Therapeutics
Characterization of Kuvan tablets involved thorough analysis of physical, chemical, and dissolution properties. Formulation development encompassed pre-formulation studies, feasibility trials, and process optimization. Kuvan tablets demonstrated variability in sapropterin dihydrochloride concentration but rapid dissolution across different media ...
Rakesh Kumar Jat, Tapan Kumar Jena
openaire   +1 more source

An Oxford Nanopore Technologies–Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort

International Journal of Genomics, Volume 2025, Issue 1, 2025.
Background: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the PAH gene, resulting in deficient phenylalanine hydroxylase (PAH) enzyme activity and neurotoxic phenylalanine accumulation. Untreated PKU results in progressive neurodegeneration and severe intellectual disability.
Gülten Tuncel, Mehmet Cihan Balcı, Gökçe Akan, Hasan Hüseyin Kazan, Özge Özgen, Ahmet Çağlar Özketen, Meryem Karaca, Asuman Gedikbaşı, Fatmahan Atalar, Gülden Fatma Gökçay, Irfan Ahmad   +10 more
wiley   +1 more source

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)

Orphanet Journal of Rare Diseases, 2018
Background People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance.
Kristen D Brantley, Teresa D Douglas, Rani H Singh   +2 more
doaj   +1 more source

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

Orphanet Journal of Rare Diseases, 2021
Background In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive impairment.
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann, Martina Huemer   +10 more
doaj   +1 more source

DDX3X Promotes Rotavirus Infection and Serves as an Antiviral Target

Transboundary and Emerging Diseases, Volume 2025, Issue 1, 2025.
Rotavirus (RV) is a significant zoonotic pathogen primarily causing severe diarrheal disease in humans and animals, posing substantial risks to global public health and livestock industries. VP4 is one of the outer capsid proteins of RV and plays a crucial role in RV attachment and internalization.
Pengfei Hao, Yuchen Liu, Chunmei Cui, Letian Li, Qiaoqiao Qu, Limin Shang, Jing Chen, Yuhang Jiang, Ronglan Yin, Jian Wang, Guoqing Wang, Chang Li, Zongfu Wu   +12 more
wiley   +1 more source

Comparative analysis of gene and disease selection in genomic newborn screening studies

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 945-970, September 2024.
Abstract Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of target diseases and associated genes to be included.
Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl   +8 more
wiley   +1 more source

Dietary intervention in the management of phenylketonuria: current perspectives

Pediatric Health, Medicine and Therapeutics, 2016
Júlio César Rocha,1-3 Anita MacDonald4 1Centro de Genética Médica, Centro Hospitalar do Porto – CHP, 2Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, 3Center for Health Technology and Services ...
Rocha JC, MacDonald A
doaj