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Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Lafci, Naz Guleray; Colak, Fatma Kurt; Sahin, Gulseren; Sakar, Merve; Çetinkaya, Semra; Savas-Erdeve, Senay.
Afiliación
  • Lafci NG; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Medical Genetics, Ankara, Turkey. nazguleray@hotmail.com.
  • Colak FK; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Medical Genetics, Ankara, Turkey.
  • Sahin G; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara, Turkey.
  • Sakar M; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey.
  • Çetinkaya S; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey.
  • Savas-Erdeve S; Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey.
Hormones (Athens) ; 20(3): 581-585, 2021 Sep.
Article en En | MEDLINE | ID: mdl-33159679
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Vía de Pentosa Fosfato / Transaldolasa / Errores Innatos del Metabolismo de los Carbohidratos / Hipogonadismo Tipo de estudio: Diagnostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Hormones (Athens) Asunto de la revista: ENDOCRINOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Vía de Pentosa Fosfato / Transaldolasa / Errores Innatos del Metabolismo de los Carbohidratos / Hipogonadismo Tipo de estudio: Diagnostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Hormones (Athens) Asunto de la revista: ENDOCRINOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Suiza