✦ LIBER ✦

Low-molecular-weight proteinuria in a patient with Lesch-Nyhan syndrome

✍ Scribed by Kenichi Maruyama; Akito Hamajima; Nobuzo Shimizu

Publisher: Springer
Year: 2005
Tongue: English
Weight: 114 KB
Volume: 20
Category: Article
ISSN: 0931-041X
DOI: 10.1007/s00467-005-1837-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular analysis of the mutations in f

Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome

✍ Suzanne Marcus; Ernst Christensen; Gunilla Malm 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 515 KB

## Communicated by C. Thomas Caskey We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA. Three of the mutations affect splicing of exons 1, 2, and 9, respec

Purine nucleotide synthesis in lymphobla

Purine nucleotide synthesis in lymphoblasts cultured from normal subjects and a patient with Lesch-Nyhan syndrome

✍ Alexander W. Wood; Michael A. Becker; J. Edwin Seegmiller 📂 Article 📅 1973 🏛 Springer 🌐 English ⚖ 746 KB

Human lymphoblasts derived from normal and hypoxanthine-guanine phos-phoribosyItransferase (HGPRT) deficient individuals have been maintained in permanent tissue culture, and comparative studies of their purine metabolism have been undertaken. In agreement with previous observations in fibroblasts,

Reversible low-molecular-weight proteinu

Reversible low-molecular-weight proteinuria in patients with distal renal tubular acidosis

✍ Takashi Igarashi; Hidehiko Kawato; Shigehiko Kamoshita 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 419 KB

The use of 5-hydroxytryptophan in a chil

The use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome

✍ Roland D. Ciaranello; Thomas F. Anders; Jack D. Barchas; Philip A. Berger; Howar 📂 Article 📅 1976 🏛 Springer US 🌐 English ⚖ 377 KB

Disruption of the Hypoxanthine-Guanine P

Disruption of the Hypoxanthine-Guanine Phosphoribosyl-Transferase Gene Caused by a Translocation in a Patient with Lesch—Nyhan Syndrome

✍ Makiko Mizunuma; Yasukazu Yamada; Kenichiro Yamada; Shin-Ichi Sonta; Nobuaki Wak 📂 Article 📅 2005 🏛 John Wiley and Sons ⚖ 9 KB 👁 1 views

## Abstract For Abstract see ChemInform Abstract in Full Text.

Duplication in the hypoxanthine phosphor

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome

✍ Suzanne Marcus; Dennis Hellgren; Bo Lambert; Sven Petter Fällström; Jan Wahlströ 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 582 KB

We have determined the structure, at the nucleotide sequence level, of a duplication in the hprt gene in a patient with Lesch-Nyhan syndrome (LN). The duplication extends over exons 7 and 8 and approximately 1.8 kb of the surrounding hprt sequence. The duplication junction is localized within two Al