Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Berardinelli–Seip 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:
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
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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 subtype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a8c7b49a5ca5f200403c1ca7fcaadd9
http://link.springer.com/article/10.1186/s13023-020-01383-y
http://link.springer.com/article/10.1186/s13023-020-01383-y
Autor:
Asma Sikander, Eissa Faqeih, Mohammed AlSheef, Abdul Rehman Z. Zaidi, Njoud Abdulrahman Alhowar
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33f6cc05405f96c3fd46d825b6a4f9f
https://doi.org/10.4081/itjm.2020.1231
https://doi.org/10.4081/itjm.2020.1231
Autor:
Bethany R. Cartwright, Joel M. Goodman
Publikováno v:
Journal of Lipid Research, Vol 53, Iss 6, Pp 1042-1055 (2012)
The most-severe form of congenital generalized lipodystrophy (CGL) is caused by mutations in BSCL2/seipin. Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum that concentrates at junctions with cytoplasmic lipid drople
Externí odkaz:
https://doaj.org/article/2b073082d24d4a50af922de203b30f92
Autor:
Weihua Fei, Hui Li, Guanghou Shui, Tamar S. Kapterian, Christopher Bielby, Ximing Du, Andrew J. Brown, Peng Li, Markus R. Wenk, Pingsheng Liu, Hongyuan Yang
Publikováno v:
Journal of Lipid Research, Vol 52, Iss 12, Pp 2136-2147 (2011)
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin has been implicated in adipocyte differentiation, lipid droplet (LD) formation, and motor neuron development. However, the molecular function of seipin and its d
Externí odkaz:
https://doaj.org/article/40a11fc1b201466daecc6312eb085343
Autor:
T Rao, Kavya Chennamsetty
Publikováno v:
Indian Dermatology Online Journal, Vol 5, Iss 5, Pp 20-22 (2014)
Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive disorder characterized by various dermatological and systemic manifestations such as lipoatrophy, hypertriglyceridemia, hepatomegaly, acanthosis nigricans, and acrom
Externí odkaz:
https://doaj.org/article/3e5b3f2d6ecb42af8e1cbaeabb3e23f9