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Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.
Hoehn, Thomas; Lukacs, Zoltan; Huckenbeck, Wolfgang; Torresani, Toni; Blankenstein, Oliver; Bounnack, Saysanasongkham.
Afiliação
  • Hoehn T; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Neonatology and Pediatric Intensive Care Medicine, Heinrich-Heine-University, Duesseldorf 40225, Germany thomas.hoehn@uni-duesseldorf.de.
  • Lukacs Z; Newborn Screening and Metabolic Diagnostics, Hamburg University Medical Center, Hamburg 20246, Germany.
  • Huckenbeck W; Institute for Forensic Medicine, Duesseldorf 40225, Germany.
  • Torresani T; Children's Hospital, Zurich 8032, Switzerland.
  • Blankenstein O; Institute for Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.
  • Bounnack S; Ministry of Health, Vientiane, Laos.
J Trop Pediatr ; 62(2): 158-60, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26721550
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esteroide 21-Hidroxilase / Hiperplasia Suprarrenal Congênita / 17-alfa-Hidroxiprogesterona / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esteroide 21-Hidroxilase / Hiperplasia Suprarrenal Congênita / 17-alfa-Hidroxiprogesterona / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article