Zobrazeno 1 - 10
of 334
pro vyhledávání: '"Congenital lipodystrophy"'
Autor:
Abdulrrahman Hummadi, Ahmed Ali Nahari, Ali Jaber Alhagawy, Ibrahim Zakri, Raed Abutaleb, Saeed Yafei
Publikováno v:
Clinical Case Reports, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus,
Externí odkaz:
https://doaj.org/article/4062162128844f2d90d8ad1d825583bd
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF genes define I-IV
Externí odkaz:
https://doaj.org/article/f4ffc737ebdd40339a2caeee87e60dae
Autor:
Liberato CBR, Olegario NBC, Fernandes VO, Montenegro APDR, Lima GECP, Batista LAA, Martins LV, Penaforte-Saboia JG, Liberato ILR, Lopes LF, d'Alva CB, Furtado FLB, Lima RLDM, Nóbrega LHC, Lima JG, Montenegro Junior RM
Publikováno v:
Diabetes, Metabolic Syndrome and Obesity, Vol Volume 13, Pp 107-115 (2020)
Christiane Bezerra Rocha Liberato, 1, 2 Natália Bitar da Cunha Olegario, 1, 2 Virginia Oliveira Fernandes, 1–3 Ana Paula Dias Rangel Montenegro, 2 Grayce Ellen da Cruz Paiva Lima, 1, 2 Lívia Aline de Araújo Batista, 1, 2 Lívia Vasconcelos Marti
Externí odkaz:
https://doaj.org/article/7ab20ab81ad24f088540392d377ff7da
Autor:
Cody McGrath, Sarah E. Little-Letsinger, Jeyantt Srinivas Sankaran, Buer Sen, Zhihui Xie, Martin A. Styner, Xiaopeng Zong, Weiqin Chen, Janet Rubin, Eric L. Klett, Rosalind A. Coleman, Maya Styner
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2022)
Exercise, typically beneficial for skeletal health, has not yet been studied in lipodystrophy, a condition characterized by paucity of white adipose tissue, with eventual diabetes, and steatosis. We applied a mouse model of global deficiency of Bscl2
Externí odkaz:
https://doaj.org/article/90c8fb2686cb4275a153c4d436770c40
Autor:
Abdul Rehman Zia Zaidi, Asma Sikander, Eissa Faqeih, Njoud Abdulrahman Alhowar, Mohammed Abdullah AlSheef
Publikováno v:
Italian Journal of Medicine, Vol 14, Iss 1 (2020)
Congenital generalized lipodystrophies are a heterogeneous group of rare disorders characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism, and mental retardation.
Externí odkaz:
https://doaj.org/article/8f2d25f266324791ba4c2fbaa41b768b
Akademický článek
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Autor:
Riyadh Sabri Alzawbaey
Publikováno v:
Diyala Journal of Medicine, Vol 9, Iss 2 (2019)
Berardinilli - Seip congenital generalized lipodystrophy (BSCL) is a very rare autosomal recessive disease characterized by near absence of adipose tissue in the subcutaneous region since birth or early infancy and severe insulin resistance. Nearly 1
Externí odkaz:
https://doaj.org/article/b895821292434139a406d7ca9c69f0f7
Akademický článek
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Publikováno v:
Acta Medica Iranica, Vol 56, Iss 4 (2018)
Berardinelli-Seip congenital lipodystrophy (BSCL) is an autosomal recessive disorder, characterized by the generalized absence of subcutaneous fat and muscular hypertrophy. Meanwhile other signs and symptoms have already been reported with this genet
Externí odkaz:
https://doaj.org/article/cf6a0cb4da9549efb453fce51e49b11e
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 189-193 (2015)
We report a 2.5 year old male, first in order of birth of first cousin consanguineous parents with the typical features of Berardinelli–Seip congenital lipodystrophy 2 (BSCL2) since birth with moderate mental retardation. He had generalized lipodys
Externí odkaz:
https://doaj.org/article/12f33885b6274e13a0852b1d0f1dff19