Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy

✍ Scribed by Yasushi Ishida; Asako Ishimaru; Hisamichi Tauchi; Akiko Yamaguchi; Masayoshi Yokoyama; Kazuhiro Hiroi; Nobuaki Wakamatsu; Yasukazu Yamada

• Publisher: Springer
• Year: 2007
• Tongue: English
• Weight: 108 KB
• Volume: 167
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/s00431-007-0607-8