Results 41 to 50 of about 156,351 (339)

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

Orphanet Journal of Rare Diseases, 2020
Background The necessity of early treatment for lysosomal storage diseases (LSDs) has triggered the development of newborn screening for LSDs in recent years.
Y. Chien, Ni‐Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, M. Gelb, P. Chiu, Shao-Yin Chu, Chen-Hao Lee, An-Ru Lee, W. Hwu   +9 more
semanticscholar   +1 more source

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +7 more sources

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

Orphanet Journal of Rare Diseases, 2017
Background The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and preferences ...
Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb   +6 more
doaj   +1 more source

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

Molecular Genetics and Metabolism Reports, 2017
Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase
Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama   +2 more
doaj   +1 more source

Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation

Heliyon, 2021
Mucopolysaccharidoses (MPSs) are a heterogeneous group of diseases that have in common the accumulation of glycosaminoglycans (mucopolysaccharides) within the lysosome.
Luis M. Carbajal-Rodríguez, Martín Pérez-García, Raymundo Rodríguez-Herrera, Haydeé Salazar Rosales, Alberto Olaya-Vargas   +4 more
doaj   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges

Frontiers in Molecular Biosciences, 2020
During the past decades, several therapeutic approaches have been developed and made rapidly available for many patients afflicted with lysosomal storage disorders (LSDs), inborn organelle disorders with broad clinical manifestations secondary to the ...
Mariola J. Edelmann, G. Maegawa
semanticscholar   +1 more source

Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq

Advanced Medical Journal, 2023
Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step,
Chenar Omer Ali Al-Jaf, Bakir Rahim, Khalid Hama Salih, Jamal Ahmad Rasheed, Adnan Mohammed Hasan   +4 more
doaj   +1 more source

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression

Journal of Clinical Medicine, 2020
About two thirds of the patients affected with lysosomal storage diseases (LSD) experience neurological manifestations, such as developmental delay, seizures, or psychiatric problems.
Camila Pará, Poulomee Bose, A. Pshezhetsky   +2 more
semanticscholar   +1 more source

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]

Romanian Journal of Pediatrics, 2017
Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
doaj   +1 more source