Results 51 to 60 of about 26,955 (257)

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Genetics in Medicine, 2018
Phenylketonuria (PKU) is a rare metabolic disorder that requires life-long management to reduce phenylalanine (Phe) concentrations within the recommended range.
N. Longo, D. Dimmock, H. Levy, K. Viau, H. Bausell, D. Bilder, B. Burton, Christel Gross, H. Northrup, F. Rohr, Stephanie J. Sacharow, Amarilis Sanchez-Valle, M. Stuy, J. Thomas, J. Vockley, R. Zori, C. Harding   +16 more
semanticscholar   +1 more source

Safety, tolerability, pharmacokinetics and pharmacodynamics of HSK31858, a novel oral dipeptidyl peptidase‐1 inhibitor, in healthy volunteers: An integrated phase 1, randomized, double‐blind, placebo‐controlled, single‐ and multiple‐ascending dose study

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Dipeptidyl peptidase‐1 (DPP‐1) inhibitors have been studied for the treatment of neutrophil‐mediated inflammatory diseases including bronchiectasis, bronchial asthma and cystic fibrosis. This study evaluated the pharmacokinetics, pharmacodynamics, safety and tolerability of DPP‐1 inhibitor HSK31858 in healthy Chinese volunteers.
Yuhao Wang, Chao Yu, Mengyue Hu, Lu Wang, Meixia Chen, Hanmo Liu, Nan Wu, Jie Hou   +7 more
wiley   +1 more source

Crianças com fenilcetonúria: avaliação audiológica básica e supressão das otoemissões Children with phenylketonuria: basic audiological evaluation and suppression of otoacoustic emissions

Revista da Sociedade Brasileira de Fonoaudiologia, 2012
OBJETIVO: Avaliar a via auditiva de crianças com fenilcetonúria tratadas precocemente, por meio de audiometria, imitanciometria e supressão das emissões otoacústicas transientes. MÉTODOS:Estudo prospectivo transversal comparativo com amostra composta por
Patrícia Souza Ribeiro, Tatiana Lopes Torres, Ana Lúcia Pimenta Starling, Maria Cecília Martinelli Iório, Patrícia Cotta Mancini   +4 more
doaj   +1 more source

Transendocardial injection of expanded autologous CD34+ cells after myocardial infarction: Design of the EXCELLENT trial

ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.
Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli, François Roubille, Nicolas Meyer, Giulio Pompilio, Lionel Leroux, Philippe Henon, Guillaume Trebuchet, Anthony Criquet, Matthieu de Kalbermatten, Eric Saloux, Alain Manrique, Pierre‐Yves Marie, Deepak L. Bhatt, Scott D. Solomon, Gilles Montalescot, David E. Newby, Faiez Zannad, on behalf of the EXCELLENT Trial Investigators   +17 more
wiley   +1 more source

A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood

The Turkish Journal of Pediatrics, 2016
Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients.
Betül Mazlum, Banu Anlar, H Serap Kalkanoğlu-Sivri, Kader Karlı-Oğuz, Şeniz Özusta, Fatih Ünal   +5 more
doaj   +1 more source

State-of-the-Art 2019 on Gene therapy for Phenylketonuria.

Human Gene Therapy, 2019
Phenylketonuria (PKU) is considered to be a paradigm for a monogenic metabolic disorder but was never thought to be a primary application for human gene therapy due to established alternative treatment.
H. M. Grisch-Chan, Gerald Schwank, C. Harding, B. Thony   +3 more
semanticscholar   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Neonatal Phenylketonuria Screening Indices in Kerman district during 2013-2017

پژوهش‌های سلامت‌محور, 2019
Neonatal Phenylketonuria Screening Indices in Kerman District during 2013-2017   Bavafa Babak1, Ahmadipour Habibeh2*, Bigham Eshrat3   1. Pediatrician, Focal Point of Phenylketonuria, Family Physician Clinic, Afzalipour School of Medicine, Kerman ...
Babak Bavafa, Habibeh Ahmadipour, Eshrat Bigham   +2 more
doaj  

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Measurement of Neopterin and Biopterin in Urine from Phenylketonuria Heterozygotes and Normal Controls

Pteridines, 1991
The effect of an oral load of phenylalanine (100 mg/kg body weight) on the levels of neopterin and biopterin in urine has been determined in 8 heterozygotes for classical phenylketonuria and 25 supposed normal controls. In basal conditions, neopterin and
Ruiz-Vázquez P., Bel Y., Garcia A. M., Cabello M. L., Dalmau J., Alós T., Catalá J. L., Ferré J.   +7 more
doaj   +1 more source