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Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Cho, Ja Hyang; Choi, Jin-Ho; Heo, Sun Hee; Kim, Gu-Hwan; Yum, Mi-Sun; Lee, Beom Hee; Yoo, Han-Wook.
Afiliación
  • Cho JH; Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, South Korea.
  • Choi JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea.
  • Heo SH; Genome Research Center for Birth Defects and Genetic Diseases, Asan Institute for Life Sciences, Asan Medical Center, Seoul, South Korea.
  • Kim GH; Medical Genetics Center, Asan Medical Center, Seoul, South Korea.
  • Yum MS; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea.
  • Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea.
  • Yoo HW; Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, South Korea. hwyoo@amc.seoul.kr.
Metab Brain Dis ; 34(5): 1335-1340, 2019 10.
Article en En | MEDLINE | ID: mdl-31129767
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Exones / Hipoxantina Fosforribosiltransferasa / Síndrome de Lesch-Nyhan / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Exones / Hipoxantina Fosforribosiltransferasa / Síndrome de Lesch-Nyhan / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article