Zobrazeno 1 - 10
of 6 579
pro vyhledávání: '"Lysosomal Storage Disease"'
Autor:
Moeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, Manal Afqi, Nouriya Al-Sanna’a, Rawda Sunbul, Maha Faden
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of
Externí odkaz:
https://doaj.org/article/dab5608ea1f248e486e4e7a51035729b
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-12 (2024)
Abstract Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein. This dysfunction causes intracellular cystine accumulation, resulting
Externí odkaz:
https://doaj.org/article/3b2d1a474476484b9691dda3f6da69c3
Autor:
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS)
Externí odkaz:
https://doaj.org/article/035cbead2c0241dba2d01dd40974329c
Publikováno v:
Quality in Sport, Vol 20 (2024)
Abstract: Introduction: Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase. There are two main forms: i
Externí odkaz:
https://doaj.org/article/8badc358a94b4691afabb3016bdb7f43
Publikováno v:
European Journal of Medical Research, Vol 29, Iss 1, Pp 1-26 (2024)
Abstract Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system. This systematic literature r
Externí odkaz:
https://doaj.org/article/b0f4ee0747944b2ca1bbe6ae9c821918
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3. While extensive efforts have been undertaken to unde
Externí odkaz:
https://doaj.org/article/add1cc127d6140539d5ad59353d974ac
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clin
Externí odkaz:
https://doaj.org/article/e280d49d65bd428c906dc84f901eef34
Autor:
Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/6fb2e451663f498097b6426ea1b01233
Autor:
Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia O’Donnell, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101272- (2024)
Alpha-mannosidosis is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues. Enzyme replacement therapy is available but is not approved for treating the CN
Externí odkaz:
https://doaj.org/article/32143ef83a1245e2aafcf6401173762a
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Bibliometrics can trace general research trends in a particular field. Mucopolysaccharidoses (MPS), as a group of rare genetic diseases, seriously affect the quality of life of patients and their families. Scholars have devoted themselves
Externí odkaz:
https://doaj.org/article/36d05974ba6b472eaffcb5b3c339563d