✦ LIBER ✦

Purine Nucleoside Phosphorylase Deficiency in Saudi Arabia

✍ Scribed by Alangari, A.A.A.; Al-Harbi, A.; Alghonaium, A.; Hershfied, M.

Book ID: 119277216
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 198 KB
Volume: 117
Category: Article
ISSN: 1097-6825
DOI: 10.1016/j.jaci.2005.12.689

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Purine Nucleoside Phosphorylase Deficien

Purine Nucleoside Phosphorylase Deficiency

✍ Robert L. Wortmann; Catherine Andres; Janice Kaminska; Edwin Mejias; Erwin Gelfa 📂 Article 📅 1979 🏛 John Wiley and Sons 🌐 English ⚖ 615 KB

## Abstract The biochemical features of two families with purine nucleoside phosphorylase deficiency are compared. Laboratory studies and an evaluation of kinetic and physical properties of erythrocyte purine nucleoside phosphorylase give evidence that a) the degree of abnormality in uric acid and

Mutations in purine nucleoside phosphory

Mutations in purine nucleoside phosphorylase deficiency

✍ M. Louise Markert; Bruce D. Finkel; Tanya M. McLaughlin; TJ Watson; Harold R. Co 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB

Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A 174P

Stroke in purine nucleoside phosphorylas

Stroke in purine nucleoside phosphorylase deficiency

✍ David A. Tam Jr.; Robert T. Leshner 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 385 KB

Prenatal exclusion of purine nucleoside

Prenatal exclusion of purine nucleoside phosphorylase deficiency

✍ E. Carapella Luca; M. Stegagno; C. Dionisi Vici; R. Paesano; L. D. Fairbanks; G. 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 261 KB

We report on the prenatal exclusion of purine nucleoside phosphorylase (PNP) deficiency in a fetus whose parents were known to be heterozygotes for the enzyme defect. Prenatal investigation was performed in the 16th week of gestation on amniotic fluid and cultured amnion cells using sensitive techni

Purine Nucleoside Phosphorylase Deficien

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

✍ Walker, P. L. C.; Corrigan, Adele; Arenas, Monica; Escuredo, Emilia; Fairbanks, 📂 Article 📅 2011 🏛 Taylor and Francis Group 🌐 English ⚖ 78 KB

Another family with purine nucleoside ph

Another family with purine nucleoside phosphorylase deficiency

✍ Paola Lucarelli; Rosa M. Corbo; R. Scacchi; R. Palmarino; Erminia Carapella-De L 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 143 KB

A brief genetic report is given on a family with a child affected by nucleoside phosphorylase deficiency. Our observations confirm the genetic heterogeneity of this enzyme deficiency which is inherited as a mendelian autosomal trait.