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A new D-galactose treatment monitoring index for PGM1-CDG.
Perales-Clemente, Ester; Liedtke, Kristen; Studinski, April; Radenkovic, Silvia; Gavrilov, Dimitar; Oglesbee, Devin; Matern, Dietrich; Rinaldo, Piero; Tortorelli, Silvia; Morava, Eva; Raymond, Kimiyo.
Afiliação
  • Perales-Clemente E; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Liedtke K; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Studinski A; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Radenkovic S; Katholieke Universiteit Leuven, VIB Center for Cancer Biology, Leuven, Belgium.
  • Gavrilov D; Laboratory of Hepatology, Department CHROMETA, KU, Leuven, Belgium.
  • Oglesbee D; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Matern D; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Rinaldo P; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Tortorelli S; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Morava E; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Raymond K; Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
J Inherit Metab Dis ; 44(5): 1263-1271, 2021 09.
Article em En | MEDLINE | ID: mdl-34043239
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio / Galactose Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio / Galactose Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article