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Late diagnosis of 3ß-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.
Fanis, Pavlos; Neocleous, Vassos; Kosta, Konstantina; Karipiadou, Aristea; Hartmann, Michaela F; Wudy, Stefan A; Karantaglis, Nikolaos; Papadimitriou, Dimitrios T; Skordis, Nicos; Tsikopoulos, Georgios; Phylactou, Leonidas A; Roilides, Emmanouil; Papagianni, Maria.
Afiliação
  • Fanis P; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Neocleous V; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Kosta K; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Karipiadou A; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Hartmann MF; Unit of Endocrinology, Diabetes and Metabolism 3rd Department of Pediatrics, Aristotle University School of Health Sciences, Hippokration Hospital of Thessaloniki, Thessaloniki, Greece.
  • Wudy SA; Unit of Endocrinology, Diabetes and Metabolism 3rd Department of Pediatrics, Aristotle University School of Health Sciences, Hippokration Hospital of Thessaloniki, Thessaloniki, Greece.
  • Karantaglis N; Division of Paediatric Endocrinology & Diabetology, Steroid Research & Mass Spectrometry Unit, Justus Liebig University, Giessen, Germany.
  • Papadimitriou DT; Division of Paediatric Endocrinology & Diabetology, Steroid Research & Mass Spectrometry Unit, Justus Liebig University, Giessen, Germany.
  • Skordis N; Unit of Endocrinology, Diabetes and Metabolism 3rd Department of Pediatrics, Aristotle University School of Health Sciences, Hippokration Hospital of Thessaloniki, Thessaloniki, Greece.
  • Tsikopoulos G; Department of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Athens, Greece.
  • Phylactou LA; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Roilides E; Division of Pediatric Endocrinology, Paedi Center for specialized Pediatrics, Nicosia, Cyprus.
  • Papagianni M; St George's University of London Medical School at the University of Nicosia, Nicosia, Cyprus.
J Pediatr Endocrinol Metab ; 34(1): 131-136, 2021 Jan 27.
Article em En | MEDLINE | ID: mdl-33180036
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progesterona Redutase / Esteroides / Hiperplasia Suprarrenal Congênita / Metaboloma / Homozigoto Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Chipre
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progesterona Redutase / Esteroides / Hiperplasia Suprarrenal Congênita / Metaboloma / Homozigoto Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Chipre