Results 11 to 20 of about 1,393 (127)

Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns [PDF]

Molecular Genetics and Metabolism Reports
Background: Phenylketonuria (PKU) is a metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency, resulting in elevated plasma phenylalanine (Phe) levels.
Jariya Upadia, Grace Noh, Kea Crivelly, Amy Cunningham, Elise Aziz, Hans C. Andersson   +5 more
doaj   +2 more sources

Adapted Milwaukee protocol for rabies treatment in a Brazilian indigenous child: case report [PDF]

Virology Journal
Background This case report describes the treatment of a 12-year-old indigenous Brazilian girl from the Maxakali group with rabies using the adapted Milwaukee Protocol.
Dilceu Silveira Tolentino Júnior, Maryana Santos Vasconcelos Marques, Roberto Carlos de Oliveira   +2 more
doaj   +2 more sources

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

Orphanet Journal of Rare Diseases, 2021
Background During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalanine hydroxylase ...
Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch   +12 more
doaj   +1 more source

Recommendations on phenylketonuria in Turkey

The Turkish Journal of Pediatrics, 2022
Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri   +4 more
doaj   +1 more source

Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness

Children, 2021
The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin ...
Huey-Fen Chen, Angela M. Rose, Susan Waisbren, Ayesha Ahmad, Lisa A. Prosser   +4 more
doaj   +1 more source

Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice

Frontiers in Bioengineering and Biotechnology, 2022
Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients’ blood and organs.
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Maria Jose Limeres, Sebastian Wirsching, Katja Hilbert, Mansure Abdollah Pasha Famian, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring   +11 more
doaj   +1 more source

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria [PDF]

Clinical and Experimental Pediatrics, 2023
Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12th chromosome.
Fatma Nur Keskin, Teslime Özge Şahin, Raffaele Capasso, Duygu Ağagündüz   +3 more
doaj   +1 more source

Tetrahydrobiopterin (BH₄) Supplementation Prevents the Cardiorenal Effects of Diabetes in Mice by Reducing Oxidative Stress, Inflammation and Fibrosis

Biomedicines, 2022
Background: The effects of diabetes on the cardiovascular system as well as in the kidney are profound, which include hypertrophy and fibrosis. Diabetes also induces oxidative stress, at least in part due to the uncoupling of nitric oxide synthase (NOS);
Ulises Novoa, Karen Soto, Cristian Valdés, Jorge Villaseñor, Adriana V. Treuer, Daniel R. González   +5 more
doaj   +1 more source

Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses

Molecular Genetics and Metabolism Reports, 2022
In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now the second medication available for PKU patients since the approval of sapropterin dihydrochloride in 2007.
Erika R. Vucko, Kirsten E. Havens, Joshua J. Baker, Barbara K. Burton   +3 more
doaj   +1 more source

Sapropterin Treatment Prevents Congenital Heart Defects Induced by Pregestational Diabetes Mellitus in Mice

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
Background Tetrahydrobiopterin is a cofactor of endothelial NO synthase (eNOS), which is critical to embryonic heart development. We aimed to study the effects of sapropterin (Kuvan), an orally active synthetic form of tetrahydrobiopterin on eNOS ...
Anish Engineer, Tana Saiyin, Xiangru Lu, Andrew S. Kucey, Brad L. Urquhart, Thomas A. Drysdale, Kambiz Norozi, Qingping Feng   +7 more
doaj   +1 more source