Biallelic GALM pathogenicvariants cause a novel type of galactosemia

PurposeGalactosemia 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...

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Veröffentlicht in:	Genetics in medicine 2019-06, Vol.21 (6), p.1286-1294
Hauptverfasser:	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, Kure Shigeo
Format:	Artikel
Sprache:	eng
Schlagworte:	Breastfeeding & lactation Congenital diseases Enzymes Gallbladder diseases Genetics Genomes Genomics Glucose Lactose Medical screening Medicine Metabolism Patients Pediatrics Proteins
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