Zobrazeno 1 - 10
of 2 058
pro vyhledávání: '"lysosomal-storage disorder"'
Autor:
Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background The GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases having symptom onset in infancy and reduced life expectancy. The conditions are rare, and there is therefore
Externí odkaz:
https://doaj.org/article/395c54a9c19542dcae550c53af3693de
Autor:
Katherine B. McCullough, Amanda Titus, Kate Reardon, Sara Conyers, Joseph D. Dougherty, Xia Ge, Joel R. Garbow, Patricia Dickson, Carla M. Yuede, Susan E. Maloney
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-25 (2024)
Abstract Background Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models of lysosomal storage d
Externí odkaz:
https://doaj.org/article/1e7bbcd0e48b4fcbb80760bcf8ba1676
Autor:
Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101124- (2024)
Niemann Pick Type C disease is a rare and progressive neurodegenerative lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 and NPC2 genes. It is characterized by the accumulation of multiple lipid species in the endolysoso
Externí odkaz:
https://doaj.org/article/d77ce205b35a4fb19f0cb8bf467c1076
Autor:
Hind Alsharhan, Mohammad Z. Haider, Bann Qadoura, Mariam Ayed, Gursev S. Dhaunsi, Hessa Alkandari
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent α-L-iduronidase (IDUA) enzyme activity due to pathogenic variants in the IDUA gene. Early treatment with hematopoietic ste
Externí odkaz:
https://doaj.org/article/55229be0408f4bd5805919feb32bcfde
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function app
Externí odkaz:
https://doaj.org/article/683fec89e70a4cc6b8071beb29388046
Autor:
Margherita Di Costanzo, Nicoletta de Paulis, Giuseppe Cannalire, Nicola Morelli, Giacomo Biasucci
Publikováno v:
Children, Vol 11, Iss 8, p 960 (2024)
We report on a 4-year-old boy affected by Gaucher disease (GD) type 3, who presented with splenomegaly and a history of oculomotor apraxia. GD is a rare lysosomal storage disorder caused by glucocerebrosidase deficiency with multi-organ involvement.
Externí odkaz:
https://doaj.org/article/6b5e2cd496784a92a6f46e0aae927771
Autor:
Katarzyna Szymańska, Julia Krasnoborska, Sylwia Samojedny, Maciej Superson, Katarzyna Szmyt, Kamil Walczak, Klaudia Wilk-Trytko, Łukasz Zarębski
Publikováno v:
Journal of Education, Health and Sport, Vol 64 (2024)
Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements
Externí odkaz:
https://doaj.org/article/5eb46aaa971141faba222801afce2d42
Autor:
Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101888- (2024)
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate,
Externí odkaz:
https://doaj.org/article/2f5e4afdc6ec40a8871842cad5e52d37
Autor:
Ryan Colburn, David Lapidus
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2024)
This study includes over 11.6M newborns screened (NBS) for Pompe Disease (PD) from 29 distinct universal screening programs across 8 countries and 4 continents. The birth prevalence of PD is 1:18,711, with no evidence of difference across populations
Externí odkaz:
https://doaj.org/article/3aa0d14cc7d64de3aada79283356595b
Autor:
Jeiny Luna Choconta, Verena Labi, Cristiana Dumbraveanu, Theodora Kalpachidou, Kai K. Kummer, Michaela Kress
Publikováno v:
Immunity & Ageing, Vol 20, Iss 1, Pp 1-15 (2023)
Abstract Pain in Fabry disease (FD) is generally accepted to result from neuronal damage in the peripheral nervous system as a consequence of excess lipid storage caused by alpha-galactosidase A (α-Gal A) deficiency. Signatures of pain arising from
Externí odkaz:
https://doaj.org/article/d7cfec8667fd48a0ac4476aea728779d