Results 101 to 110 of about 2,204 (208)

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria [PDF]

, 2015
Background: In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment.
Danecka, Marta K., Feillet, Francois, Gersting, Søren W., Muntau, Ania C., Woidy, Mathias, Zschocke, Johannes   +5 more
core   +1 more source

State‐of‐the‐art 2023 on gene therapy for phenylketonuria

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 80-92, January 2024.
Abstract Phenylketonuria (PKU) or hyperphenylalaninemia is considered a paradigm for an inherited (metabolic) liver defect and is, based on murine models that replicate all human pathology, an exemplar model for experimental studies on liver gene therapy.
Michael Martinez, Cary O. Harding, Gerald Schwank, Beat Thöny   +3 more
wiley   +1 more source

Gene therapy for neurotransmitter‐related disorders

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 176-191, January 2024.
Abstract Inborn errors of neurotransmitter (NT) metabolism are a group of rare, heterogenous diseases with predominant neurological features, such as movement disorders, autonomic dysfunction, and developmental delay. Clinical overlap with other disorders has led to delayed diagnosis and treatment, and some conditions are refractory to oral ...
Wing Sum Chu, Joanne Ng, Simon N. Waddington, Manju A. Kurian   +3 more
wiley   +1 more source

Safety of sapropterin dihydrochloride (6r–bh4) in patients with pulmonary hypertension

Experimental Lung Research, 2010
The authors investigated the safety of oral tetrahydrobiopterin (BH4), a cofactor for nitric oxide synthesis, as a novel treatment for pulmonary hypertension (PH). Eighteen patients with pulmonary arterial hypertension or inoperable chronic thromboembolic PH received sapropterin dihydrochloride (6R-BH4), the optically active form of BH4, in addition to
Brian W. Christman, Tracy Oyler, Anna R. Hemnes, Lisa A. Mendes, Martin R. Wilkins, Rochelle Gonzalez, Rui-Hong Du, Lan Zhao, Ivan M. Robbins, Sharon Meehan, Luke Howard, Inês Zimbarra Cabrita, J. Simon R. Gibbs   +12 more
openaire   +3 more sources

Metabolomics in Phenylketonuria disease: A systematic review [PDF]

, 2021
Treballs Finals de Grau de Nutrició Humana i Dietètica, Facultat de Farmàcia i Ciències de l'Alimentació, Campus de l'Alimentació de Torribera, Universitat de Barcelona. Curs: 2020-2021. Tutor: Rafael Llorach[eng] Phenylketonuria is an inherited disorder
Bakkali Aissaoui, Hadia
core  

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran

Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.
The clinical effect of reported variants is essential for genetic counseling and prenatal diagnosis in the patients' families and significant for the improvement of precision medicine. Abstract Background Hyperphenylalaninemia (HPA) is a metabolic disorder classified into phenylalanine‐4‐hydroxylase (PAH) and non‐PAH deficiency.
Seyed Reza Kazemi Nezhad, Pegah Namdar Aligoodarzi, Golale Rostami, Gholamreza Shariati, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Mohammad Hamid   +7 more
wiley   +1 more source

Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial [PDF]

Background and Purpose-Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a rare autosomal dominant disorder caused by NOTCH3 mutations, is characterized by vascular smooth muscle and endothelial cells ...
Campolo, Jonica, De Maria, Renata, Federico, Antonio, Frontali, Marina, Parodi, Oberdan, Parolini, Marina, Taroni, Franco   +6 more
core  

The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands [PDF]

, 2013
Background Phenylketonuria (PKU) is a rare inborn error of metabolism that affects the ability of patients to metabolise phenylalanine (Phe). Lifelong management of blood Phe levels is required in order to avoid the complications associated with PKU ...
Bosch, Annet M., Demirdas, Serwet, Eijgelshoven, Indra, Latour, Sabine, Smith, T. Alexander, van Loon, Jeanni M.T.   +5 more
core   +1 more source

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

Gynecological Endocrinology, 2016
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome.
Yilmaz Yildiz, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı   +4 more
openaire   +3 more sources

Say NO to ROS: Their Roles in Embryonic Heart Development and Pathogenesis of Congenital Heart Defects in Maternal Diabetes

Antioxidants, 2019
Congenital heart defects (CHDs) are the most prevalent and serious birth defect, occurring in 1% of all live births. Pregestational maternal diabetes is a known risk factor for the development of CHDs, elevating the risk in the child by more than four ...
Anish Engineer, Tana Saiyin, Elizabeth R. Greco, Qingping Feng   +3 more
doaj   +1 more source