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Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.
Adiyaman, Suleyman Cem; V Schnurbein, Julia; De Laffolie, Jan; Hahn, Andreas; Siebert, Reiner; Wabitsch, Martin; Kamrath, Clemens.
Afiliación
  • Adiyaman SC; Department of Pediatrics and Adolescent Medicine, Center for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diabetes, Ulm University Medical Centre, Ulm, Germany.
  • V Schnurbein J; Department of Pediatrics and Adolescent Medicine, Center for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diabetes, Ulm University Medical Centre, Ulm, Germany.
  • De Laffolie J; Department of General Pediatrics and Neonatology, Centre of Child and Adolescent Medicine, Justus-Liebig-University Gießen, Giessen, Germany.
  • Hahn A; Department of Neuropediatrics, Centre of Child and Adolescent Medicine, Justus-Liebig-University Gießen, Giessen, Germany.
  • Siebert R; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
  • Wabitsch M; Department of Pediatrics and Adolescent Medicine, Center for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diabetes, Ulm University Medical Centre, Ulm, Germany.
  • Kamrath C; Department of General Pediatrics and Neonatology, Centre of Child and Adolescent Medicine, Justus-Liebig-University Gießen, Giessen, Germany.
J Pediatr Endocrinol Metab ; 35(7): 946-952, 2022 Jul 26.
Article en En | MEDLINE | ID: mdl-35405042
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Lipodistrofia Generalizada Congénita / Insulinas / Lipodistrofia / Enfermedades Musculares Límite: Female / Humans Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Lipodistrofia Generalizada Congénita / Insulinas / Lipodistrofia / Enfermedades Musculares Límite: Female / Humans Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania