Results 121 to 130 of about 23,156 (257)

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience [PDF]

, 2018
In every newborn with even mild hyperphenylalaninemia (HPA) tetrahydrobiopterin (BH4) deficiencies need to be excluded as soon as possible. Differential diagnosis is most commonly performed by analysis of urinary neopterin and biopterin.
Abu Seda, Bettina, Blau, Nenad, Hoffmann, Georg, Opladen, Thomas, Rassi, Anahita, Thöny, Beat   +5 more
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Parallel induction of tetrahydrobiopterin biosynthesis and indoleamine 2,3-dioxygenase activity in human cells and cell lines by interferon-γ [PDF]

, 1989
Ernst R. Werner, Gabriele Werner‐Felmayer, Dietmar Fuchs, Arno Hausen, Gilbert Reibnegger, H. Wächter   +5 more
openalex   +1 more source

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province [PDF]

, 2022
Kang Xie, Baitao Zeng, Liuyang Zhang, Shaohong Chen, Yongyi Zou, Huizhen Yuan, Shuhui Huang, Feng Wang, Qing Lü, Yanqiu Liu, Bicheng Yang   +10 more
openalex   +1 more source

The effect of tetrahydrobiopterin on the thermostability of human phenylalanine hydroxylase as studied by circular dichroism spectroscopy [PDF]

, 2000
Matthı́as Thórólfsson, Peter Fojan, Steffen B. Petersenb, Aurora Martı́nez   +3 more
openalex   +1 more source

Molecular Mechanisms of Endothelial Dysfunction in the Insulin-Resistant State: the Roles of Abnormal Pteridine Metabolism

Pteridines, 2003
Although abnormalities in endothelial function are described in various insulin-resistant conditions, including obesity, diabetes, and hypertension in both humans and animal models, the underlying mechanisms are poorly understood.
Shinozaki Kazuya, Kashiwagi Atsunori, Masada Masahiro, Okamura Tomio   +3 more
doaj   +1 more source

Molecular characteristics, phenotypic diversity and genotype-estimated therapeutic responsiveness of Serbian patients with phenylketonuria [PDF]

Journal of Medical Biochemistry, 2014
Phenylketonuria (PKU) is a rare, inherited metabolic disease which is transmitted in an autosomal recessive pattern. PKU is caused by mutations in the gene encoding the phenylalanine hydroxylase (PAH) enzyme.
Stojiljković-Petrović Maja, Klaassen Kristel, Pavlović Sonja   +2 more
doaj  

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

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
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Wiedererscheinen von Tetrahydrobiopterin in der Regenerationsknospe von Triturus-Arten [PDF]

, 1968
Nikos Kokolis, Irmgard Ziegler
openalex   +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
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