Zobrazeno 1 - 10
of 748
pro vyhledávání: '"Congenital generalized lipodystrophy"'
Autor:
Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have ana
Externí odkaz:
https://doaj.org/article/75ef611592ac46869fbc423ec526ad5f
Autor:
Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Ozbek
Publikováno v:
JCRPE, Vol 15, Iss 3, Pp 329-333 (2023)
Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has bee
Externí odkaz:
https://doaj.org/article/b651e69acbc8494fac0c0d6b3485c796
Publikováno v:
Zhenduanxue lilun yu shijian, Vol 21, Iss 05, Pp 592-597 (2022)
Objective: To explore the genotype and clinical phenotype of congenital generalized lipodystrophy type 1(CGL1), and to improve awareness of the disease. Methods: A patient with severe acanthosis nigricans was diagnosed as having CGL1, and the clinica
Externí odkaz:
https://doaj.org/article/98de95d9da9143a9a2f49f2b23b9675a
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
We herein first report the use of conventional echocardiography combined with two-dimensional speckle-tracking to diagnose and monitor the changing process of cardiac involvement in an infant with congenital lipodystrophy. An 8-month-old girl was adm
Externí odkaz:
https://doaj.org/article/8a17c70405ec45ac90ae9492dba5380f
Publikováno v:
BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Congenital generalized lipodystrophy (CGL) is a clinically heterogeneous disorder characterized by near total absence of adipose tissue along with metabolic complications. Diabetes mellitus developed from CGL usually present betwe
Externí odkaz:
https://doaj.org/article/18d3be9e8349476c87dcc53ad1a1a932
Akademický článek
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Publikováno v:
Jichu yixue yu linchuang, Vol 41, Iss 9, Pp 1333-1337 (2021)
Objective To retrospectively analyze the clinical data of a patient with congenital generalized lipodystrophy (CGL) type 2 caused by BSCL2 mutation. Methods The clinical data of a patient with CGL was analyzed, including clinical features, laboratory
Externí odkaz:
https://doaj.org/article/eb848b5bc2fb404899a0acdfed110862
Akademický článek
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Akademický článek
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Autor:
Mayara Ponte Madeira, Erika Bastos Lima Freire, Virginia Oliveira Fernandes, Grayce Ellen da Cruz Paiva Lima, Ivana da Ponte Melo, Ana Paula Dias Rangel Montenegro, José Ednésio da Cruz Freire, Caroline de Fátima Aquino Moreira-Nunes, Raquel Carvalho Montenegro, Jeová Keny Baima Colares, Renan Magalhães Montenegro Junior, Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO)
Publikováno v:
Diabetology & Metabolic Syndrome, Vol 13, Iss 1, Pp 1-9 (2021)
Abstract Background A new strain of human coronavirus (HCoV) spread rapidly around the world. Diabetes and obesity are associated with a worse prognosis in these patients. Congenital Generalized Lipodystrophy (CGL) patients generally have poorly cont
Externí odkaz:
https://doaj.org/article/ab762307fc244b7594e31f0b7309d5dd