Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.

Kim, Tae Hyeong; Kim, Kwang Yeon; Kim, Man Jin; Seong, Moon-Woo; Park, Sung Sup; Moon, Jin Soo; Ko, Jae Sung

Kim, Tae Hyeong; Kim, Kwang Yeon; Kim, Man Jin; Seong, Moon-Woo; Park, Sung Sup; Moon, Jin Soo; Ko, Jae Sung.

Afiliação

Kim TH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kim KY; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kim MJ; Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Seong MW; Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Park SS; Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Moon JS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Ko JS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address: kojs@snu.ac.kr.

Eur J Med Genet ; 63(6): 103921, 2020 Jun.

Article em En | MEDLINE | ID: mdl-32244026

Assuntos

Testes Genéticos/métodos; Doença de Depósito de Glicogênio/genética; Mutação; Pré-Escolar; Feminino; Doença de Depósito de Glicogênio/diagnóstico; Humanos; Lactente; Masculino; Fosforilase Quinase/genética

Palavras-chave

Glycogen storage disease; Hepatocellular carcinoma; PHKA2; PHKG2; Phosphorylase kinase

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio / Testes Genéticos / Mutação Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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