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Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.
Dushar, Marya; Nowaczyk, Jedrzej; Pyrzak, Beata; Akopyan, Hayane; Smigiel, Robert; Walczak, Anna; Rydzanicz, Malgorzata; Ploski, Rafal; Szczaluba, Krzysztof.
Afiliación
  • Dushar M; SI Institute of Hereditary Pathology NAMS of Ukraine, Lviv, Ukraine.
  • Nowaczyk J; Department of Paediatrics, Medical University of Warsaw, Warsaw, Poland.
  • Pyrzak B; Department of Paediatrics and Endocrinology, Medical University of Warsaw, Warsaw, Poland.
  • Akopyan H; SI Institute of Hereditary Pathology NAMS of Ukraine, Lviv, Ukraine.
  • Smigiel R; Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Medical University, Wroclaw, Poland.
  • Walczak A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Eur J Med Genet ; 64(12): 104368, 2021 Dec.
Article en En | MEDLINE | ID: mdl-34673243
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sirolimus / Proteínas Proto-Oncogénicas c-akt / Hipoglucemia / Mutación Límite: Adolescent / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Ucrania Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sirolimus / Proteínas Proto-Oncogénicas c-akt / Hipoglucemia / Mutación Límite: Adolescent / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Ucrania Pais de publicación: Países Bajos