Mutations in HADHB,which encodes the β‐subunit of mitochondrial trifunctional protein,cause infantile onset hypoparathyroidism and peripheral polyneuropathy期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Mutations in HADHB,which encodes the β‐subunit of mitochondrial trifunctional protein,cause infantile onset hypoparathyroidism and peripheral polyneuropathy

Authors:	Misako Naiki Nobuhiko Ochi Yusuke S. Kato Jamiyan Purevsuren Kenichiro Yamada Reiko Kimura Daisuke Fukushi Shinya Hara Yasukazu Yamada Toshiyuki Kumagai Seiji Yamaguchi Nobuaki Wakamatsu

Affiliation:	1. Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan;2. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan;3. Department of Pediatrics, Daini‐Aoitori Gakuen, Aichi Prefectural Hospital and Habilitation Center for Disabled Children, Okazaki, Aichi, Japan;4. Institute for Health Science, Tokushima Bunri University, Tokushima, Japan;5. Department of Pediatrics, Shimane University, Faculty of Medicine, Izumo, Shimane, Japan;6. Department of Pediatrics, Toyota Memorial Hospital, Toyota, Aichi, Japan;7. Department of Pediatric Neurology, Kobato Gakuen, Aichi Human Service Center, Kasugai, Aichi, Japan

Abstract:

Keywords:	hypoparathyroidism MTP deficiency HADHB LCKT peripheral polyneuropathy