✦ LIBER ✦

6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

✍ Scribed by Michelle K. Demos; Paula J. Waters; Hilary D. Vallance; Yolanda Lillquist; Nawal Makhseed; Keith Hyland; Nenad Blau; Mary B. Connolly

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 68 KB
Volume: 58
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.20532

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hyperphenylalaninemia due to deficiency

Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase

✍ C. R. Scriver; C. L. Clow; P. Kaplan; A. Niederwieser 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 461 KB

We have identified deficient biopterin synthesis in four probands and one sib with persistent postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign clinical presentation and normal biopterin level in cerebrospinal fluid in the newborn period, indicating the peripheral

Mutation analysis of the 6-pyruvoyl-tetr

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency

✍ Tze-Tze Liu; Kwang-Jen Hsiao; Sheng-Feng Lu; Sheu-Jen Wu; Kuei-Fen Wu; Szu-Hui C 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 1 views

Hyperphenylalaninemia (HPA) may be caused by deficiency of phenylalanine hydroxylase or tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a major cause of BH4 deficient HPA. In this study, seven singl

Pseudoexon exclusion by antisense therap

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

✍ Sandra Brasil; Hiu Man Viecelli; David Meili; Anahita Rassi; Lourdes R. Desviat; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 404 KB

Antisense oligonucleotide therapy to modulate splicing mutations in inherited diseases is emerging as a treatment option also for metabolic defects. In this article, we report the effect of cellular antisense therapy to suppress pseudoexon activation in primary dermal fibroblasts from patients with

Molecular characterization of 6-pyruvoyl

Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients

✍ Takuji Imamura; Y. Okano; Haruo Shintaku; Yutaka Hase; Gen Isshiki 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 165 KB

Prenatal diagnosis of 6-pyruvoyl tetrahy

Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects

✍ H. Shintaku; K. J. Hsiao; T. T. Liu; T. Imamura; Y. Hase; R. G. Chen; G. Isshiki 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 219 KB

“Peripheral” tetrahydrobiopterin deficie

“Peripheral” tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity

✍ A. Niederwieser; H. Shintaku; W. Leimbacher; H. C. Curtius; J. Hyànek; J. Zeman; 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 528 KB