Biallelic GALM pathogenic variants cause a novel type of galactosemia
Biallelic GALM pathogenic variants cause a novel type of galactosemia
About this item
Full title
Author / Creator
Wada, Yoichi , Kikuchi, Atsuo , Arai-Ichinoi, Natsuko , Sakamoto, Osamu , Takezawa, Yusuke , Iwasawa, Shinya , Niihori, Tetsuya , Nyuzuki, Hiromi , Nakajima, Yoko , Ogawa, Erika , Ishige, Mika , Hirai, Hiroki , Sasai, Hideo , Fujiki, Ryoji , Shirota, Matsuyuki , Funayama, Ryo , Yamamoto, Masayuki , Ito, Tetsuya , Ohara, Osamu , Nakayama, Keiko , Aoki, Yoko , Koshiba, Seizo , Fukao, Toshiyuki and Kure, Shigeo
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir pathway (GALT, GALK1, and GALE). Nevertheless, the etiology of galactosemia has not been identified in a subset of patients. This study aimed to explore the causes of unexplained galactosemi...
Alternative Titles
Full title
Biallelic GALM pathogenic variants cause a novel type of galactosemia
Authors, Artists and Contributors
Author / Creator
Kikuchi, Atsuo
Arai-Ichinoi, Natsuko
Sakamoto, Osamu
Takezawa, Yusuke
Iwasawa, Shinya
Niihori, Tetsuya
Nyuzuki, Hiromi
Nakajima, Yoko
Ogawa, Erika
Ishige, Mika
Hirai, Hiroki
Sasai, Hideo
Fujiki, Ryoji
Shirota, Matsuyuki
Funayama, Ryo
Yamamoto, Masayuki
Ito, Tetsuya
Ohara, Osamu
Nakayama, Keiko
Aoki, Yoko
Koshiba, Seizo
Fukao, Toshiyuki
Kure, Shigeo
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2135638289
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2135638289
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0340-x
