Results 21 to 30 of about 123,112 (260)

Niemann Pick disease: a rare lysosomal storage disease

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu, Sk Serjina Anwar, Noor A Sabah Liza, Syeda Tabassum Alam, Sanjida Ahmed, Mohammad Arbab Sarker, Meher Nigar Nishi, Sharmina Afrin, Mohammad Abdul Quddus   +8 more
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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

Interstitial lung disease in lysosomal storage disorders

European Respiratory Review, 2021
Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosomal ...
Raphaël Borie, B. Crestani, A. Guyard, O. Lidove   +3 more
semanticscholar   +1 more source

Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations

Acta Neuropathologica Communications, 2023
Loss of function progranulin (GRN) mutations are a major autosomal dominant cause of frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) develop frontotemporal lobar degeneration with TDP-43 pathology type A (FTLD-TDP type A ...
Skylar E. Davis, Anna K. Cook, Justin A. Hall, Yuliya Voskobiynyk, Nancy V. Carullo, Nicholas R. Boyle, Ahmad R. Hakim, Kristian M. Anderson, Kierra P. Hobdy, Derian A. Pugh, Charles F. Murchison, Laura J. McMeekin, Micah Simmons, Katherine A. Margolies, Rita M. Cowell, Alissa L. Nana, Salvatore Spina, Lea T. Grinberg, Bruce L. Miller, William W. Seeley, Andrew E. Arrant   +20 more
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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
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Lysosomal acid lipase deficiency in a 6-year-old child: case report

Archives of the Balkan Medical Union, 2020
Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI, Anna KABAKOVA, Anna-Mariia SHULHAI   +2 more
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ARE ENZYME REPLACEMENT THERAPIES EFFECTIVE AGAINST LYSOSOMAL STORAGE DISORDERS?

Gomal Journal of Medical Sciences, 2021
Lysosomal storage disorders are an agglomeration of genetic disorders such as Fabry disease, Gaucher disease, Pompe disease, Krabbe’s disease and mucopolysaccharidosis that typically impairs the prime orangs of humans, including brain, heart ...
Taimoor Hassan, Xu Huadong
doaj   +1 more source

Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct

Nature Communications, 2023
Mutations in glucocerebrosidase cause the lysosomal storage disorder Gaucher’s disease and are the most common risk factor for Parkinson’s disease. Therapies to restore the enzyme’s function in the brain hold great promise for treating the neurological ...
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, Anton Jochner, Jens Niewoehner, Luise Wolf, Matthias Fueth, Martin Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew C. Deen, Xiaoyang Shan, Zahra Ehsaei, Verdon Taylor, Ellen Sidransky, David J. Vocadlo, Per-Ola Freskgård, Ravi Jagasia   +25 more
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Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, 2023
Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins.
S. Ellison, H. Parker, B. Bigger
semanticscholar   +1 more source

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage[S]

Journal of Lipid Research, 2011
A central feature of Niemann-Pick Type C (NPC) disease is sequestration of cholesterol and glycosphingolipids in lysosomes. A large phenotypic variability, on both a clinical as well as a molecular level, challenges NPC diagnosis.
Carolina Tängemo, Dominik Weber, Susanne Theiss, Eugen Mengel, Heiko Runz   +4 more
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