Results 121 to 130 of about 23,011 (262)

Levodopa‐Responsive Dystonia Secondary to CTNNB1 Neurodevelopmental Disorder

Movement Disorders Clinical Practice, Volume 12, Issue 11, Page 2012-2014, November 2025.
Hanin Algethami, Wei Kang Lim, David Chitayat, Ingrid Tein, Alfonso Fasano, Carolina Gorodetsky   +5 more
wiley   +1 more source

Prevention of lethal murine pancreas ischemia reperfusion injury is specific for tetrahydrobiopterin [PDF]

, 2012
Manuel Maglione, Benno Cardini, Rupert Oberhuber, Katrin Watschinger, Marcel Jenny, Johanna M. Gostner, Martin Hermann, Peter Obrist, Raimund Margreiter, Johann Pratschke, Gerald Brandacher, Ernst R. Werner   +11 more
openalex   +1 more source

Negative Regulation of Insulin-induced Tetrahydrobiopterin Synthesis by Protein Kinase C in Vascular Endothelial Cells

Pteridines, 2001
We examined the role ofprotein kinase C (PKC) in the insulin-induced biosynthesis oftetrahydrobiopterin (BH4)' which is one of the co factors of nitric oxide (NO) synthase (NOS), in vascular endothelial cells. The BH. level was determined as biopterin by
Ishii Masakazu, Shimizu Shunichi, Nagai Tsutomu, Kazuhiro Shiota, Kiuchi Yuji, Yamamoto Toshinori   +5 more
doaj   +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  

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Molecular Genetics and Metabolism Reports
Background: Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state.
Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson   +8 more
doaj   +1 more source

Focus on rare diseases : The National Society for Phenylketonuria [PDF]

, 2019
Dr Michelle Muscat interviews Suzanne Ford, the Society Dietitian at The National Society for Phenylketonuria [NSPKU], in the UK.peer ...
Ford, Suzanne, Muscat, Michelle
core  

Specific Potentiation of Endothelium-Dependent Contractions in SHR by Tetrahydrobiopterin [PDF]

, 2003
Di Yang, Nigel Levens, Ji Nan Zhang, Paul M. Vanhoutte, Michel Félétou   +4 more
openalex   +1 more source

Fenilcetonúria e suas variantes: revisão bibliográfica [PDF]

, 2008
A fenilcetonúria representa o erro do metabolismo dos aminoácidos mais comum na população caucasiana, atingindo 1/10.000 nascimentos. Esta doença, de transmissão autossómica recessiva, resulta da deficiência em fenilalanina hidroxilase ou de erros no ...
Cardoso, Inês Lopes, Machado, Joana
core  

2,4‐diamino‐6‐hydroxypyrimidine, an inhibitor of tetrahydrobiopterin synthesis, downregulates the expression of iNOS protein and mRNA in primary murine macrophages [PDF]

, 1995
Christian Bogdan, Ernst R. Werner, Steffen Stenger, Helmut Wächter, Martin Rbllinghoff, Gabriele Werner‐Felmayer   +5 more
openalex   +1 more source

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

, 2023
Seyed Reza Kazemi Nezhad, Pegah Namdar Aligoodarzi, Golale Rostami, Gholamreza Shariati, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Mohammad Hamid   +7 more
openalex   +1 more source