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Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Yuzyuk, Tatiana; Balakrishnan, Bijina; Schwarz, Elizabeth L; De Biase, Irene; Hobert, Judith; Longo, Nicola; Mao, Rong; Lai, Kent; Pasquali, Marzia.
Afiliação
  • Yuzyuk T; Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA. Electronic address: tatiana.n.yuzyuk@aruplab.com.
  • Balakrishnan B; Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA.
  • Schwarz EL; ARUP Laboratories, Salt Lake City, UT, USA.
  • De Biase I; Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA.
  • Hobert J; Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA.
  • Longo N; Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA; Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA.
  • Mao R; Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA.
  • Lai K; Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA.
  • Pasquali M; Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA.
Mol Genet Metab ; 125(3): 258-265, 2018 11.
Article em En | MEDLINE | ID: mdl-30172461
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: UTP-Hexose-1-Fosfato Uridililtransferase / Eritrócitos / Galactosemias / Galactosefosfatos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: UTP-Hexose-1-Fosfato Uridililtransferase / Eritrócitos / Galactosemias / Galactosefosfatos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article