A female case of the Lesch-Nyhan syndrome.-Reference-Cited by-同舟云学术

A female case of the Lesch-Nyhan syndrome.

Published:1982 Issue:3 Volume:137 Page:275-282
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

HARA KIMIKO¹,KASHIWAMATA SHIGEO²,OGASAWARA NOBUAKI³,OHISHI HIDETSUNE⁴,NATSUME REISUKE⁵,YAMANAKA TSUTOMU⁶,HAKAMADA SUSUMU¹,MIYAZAKI SHUJI¹,WATANABE KAZUYOSHI⁷

Affiliation:

1. Departments of Pediatric Neurology, Aichi Prefectural Colony

2. Departments of Perinatology, Institute for Developmental Research, Aichi Prefectural Colony

3. Departments of Biochemistry, Institute for Developmental Research, Aichi Prefectural Colony

4. Departments of Genetics, Institute for Developmental Research, Aichi Prefectural Colony

5. Department of Orthopedics, Daiichi-Aoitori-Gakuen

6. Pediatrics, Central Hospital, Aichi Prefectural Colony

7. Department of Pediatrics, School of Medicine, Nagoya University

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.jstage.jst.go.jp/article/tjem1920/137/3/137_3_275/_pdf

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1. Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome;Frontiers in Genetics;2023-01-26

2. Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study;The Lancet Neurology;2013-12

3. Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder;Brain;2013-08-22

4. A Female Patient with Lesch-Nyhan Syndrome;Developmental Medicine & Child Neurology;2008-11-12

5. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome;Orphanet Journal of Rare Diseases;2007-12