Zobrazeno 1 - 10
of 669
pro vyhledávání: '"Lipid storage disease"'
Publikováno v:
BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-5 (2024)
Abstract Background Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by PNPLA2 gene mutations. Clinical manifestations are heterogeneous, and diagnosis is often delayed, usually gaining patients’ attent
Externí odkaz:
https://doaj.org/article/98dfab2911b34641922371c998208021
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Deficiency of adipose triglyceride lipase (ATGL) due to mutation in PNPLA2 causes neutral lipid storage disease with myopathy (NLSDM), an autosomal recessive disorder (MIM: #610717). NLSDM patients are mainly affected by progressive myopathy, cardiom
Externí odkaz:
https://doaj.org/article/3e5ffaaa3bc24159bec0137b7656a965
Akademický článek
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Autor:
João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)
Abstract Background Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is un
Externí odkaz:
https://doaj.org/article/cf1b65548b164572ae2f36bb3f465b7e
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 10 (2023)
Externí odkaz:
https://doaj.org/article/03ff83fb3e824bd9885f7efdc6b5bfa9
Publikováno v:
Free Neuropathology, Vol 4 (2023)
On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital dis-ease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy. While a dia
Externí odkaz:
https://doaj.org/article/d35e32bf5879404fb32a37a016b9c018
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by a deficiency of the sterol 27-hydroxylase enzyme. This deficiency results in excess production and accumulation of cholestanol, which can lead to many clinical find
Externí odkaz:
https://doaj.org/article/deb488341483493f83f309a42e852fa8
Publikováno v:
Zhongguo quanke yixue, Vol 25, Iss 24, Pp 3065-3069 (2022)
Background Neutral lipid storage disease with myopathy (NLSDM) has obscure onset and nonspecific clinical symptoms. Due to different clinical manifestations, the patients with NLSDM may be seen in neurology, cardiovascular disease and other departmen
Externí odkaz:
https://doaj.org/article/23286c91e8b9431097073d73c63c1fa6
Autor:
Filiz Topaloglu Demir, Baran Cayhan, Cagla Karaoglan, Zafer Turkoglu, Nesimi Buyukbabani, Mesut Ayer, Bugrahan Duz, Bulent Uyanık
Publikováno v:
Indian Journal of Dermatology, Vol 67, Iss 5, Pp 579-582 (2022)
The prevalent form of ichthyosis in neutral lipid storage disease (NLSDI) is nonbullous congenital ichthyosiform erythroderma (CIE) characterized by fine, whitish scales on erythematous skin over the whole body. Here, we report a late-diagnosed, 25-y
Externí odkaz:
https://doaj.org/article/4bddeaeb96ac406e8c63378ff3bcb024
Autor:
Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially trea
Externí odkaz:
https://doaj.org/article/0efb18fac58149eaa7184750e1d73b5b