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A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
Shao, Yongxian; Li, Taolin; Jiang, Minyan; Xu, Jianan; Huang, Yonglan; Li, Xiuzhen; Zheng, Ruidan; Liu, Li.
Afiliación
  • Shao Y; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
  • Li T; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
  • Jiang M; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
  • Xu J; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
  • Huang Y; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
  • Li X; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
  • Zheng R; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
  • Liu L; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. liliuxia@hotmail.com.
BMC Pediatr ; 22(1): 267, 2022 05 12.
Article en En | MEDLINE | ID: mdl-35549678
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno / Hipoglucemia Tipo de estudio: Diagnostic_studies Límite: Humans / Newborn Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno / Hipoglucemia Tipo de estudio: Diagnostic_studies Límite: Humans / Newborn Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: China