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DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
Elsharkawi, Ibrahim; Wongkittichote, Parith; Daniel, Earnest James Paul; Starosta, Rodrigo Tzovenos; Ueda, Keisuke; Ng, Bobby G; Freeze, Hudson H; He, Miao; Shinawi, Marwan.
  • Elsharkawi I; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Wongkittichote P; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Daniel EJP; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Starosta RT; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Ueda K; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Ng BG; Division of Pediatric Neurology, Department of Neurology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, La Jolla, California, USA.
  • He M; Human Genetics Program, Sanford Children's Health Research Center, La Jolla, California, USA.
  • Shinawi M; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
J Inherit Metab Dis ; 46(1): 92-100, 2023 01.
Article en En | MEDLINE | ID: mdl-36214423
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Trastornos del Movimiento Límite: Humans / Male Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Trastornos del Movimiento Límite: Humans / Male Idioma: En Año: 2023 Tipo del documento: Article