Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment

• 期刊名称Journal of Pediatric Endocrinology and Metabolism
• 作者Thodi, Georgia; Schulpis, Kleopatra H.; Dotsikas, Yannis; Pavlides, Christiane; Molou, Elina; Chatzidaki, Maria; Triantafylli, Olga; Loukas, Yannis L.
• 印刷ISSN0334-018X
• 电子ISSN2191-0251
• 文件大小871.47KB
• 发表时间2015-01-30
• DOI10.1515/jpem-2015-0132