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Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
Waheed, Nadia; Saeed, Anjum; Ijaz, Sadaqat; Fayyaz, Zafar; Anjum, Muhammad Nadeem; Zahoor, Yasir; Cheema, Huma Arshad.
Afiliação
  • Waheed N; Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology & Nutrition, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.
  • Saeed A; Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology & Nutrition, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.
  • Ijaz S; Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology & Nutrition, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.
  • Fayyaz Z; Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology & Nutrition, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.
  • Anjum MN; Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology & Nutrition, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.
  • Zahoor Y; Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology & Nutrition, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.
  • Cheema HA; Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology & Nutrition, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.
J Pediatr Endocrinol Metab ; 33(9): 1117-1123, 2020 Sep 25.
Article em En | MEDLINE | ID: mdl-32697758
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosforilase Quinase / Biomarcadores / Doença de Depósito de Glicogênio / Fígado / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Pediatr Endocrinol Metab Assunto da revista: ENDOCRINOLOGIA / PEDIATRIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Paquistão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosforilase Quinase / Biomarcadores / Doença de Depósito de Glicogênio / Fígado / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Pediatr Endocrinol Metab Assunto da revista: ENDOCRINOLOGIA / PEDIATRIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Paquistão