Lysosomal Storage Diseases

"Lysosomal Storage Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

Descriptor ID	D016464
MeSH Number(s)	C16.320.565.595 C18.452.648.595
Concept/Terms	Lysosomal Storage Diseases Lysosomal Storage Diseases Disease, Lysosomal Storage Diseases, Lysosomal Storage Lysosomal Storage Disease Lysosomal Enzyme Disorders Disorder, Lysosomal Enzyme Disorders, Lysosomal Enzyme Enzyme Disorder, Lysosomal Enzyme Disorders, Lysosomal Lysosomal Enzyme Disorder

Below are MeSH descriptors whose meaning is more general than "Lysosomal Storage Diseases".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Lysosomal Storage Diseases [C16.320.565.595]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Lysosomal Storage Diseases [C18.452.648.595]

Below are MeSH descriptors whose meaning is related to "Lysosomal Storage Diseases".

Below are MeSH descriptors whose meaning is more specific than "Lysosomal Storage Diseases".

Lysosomal Storage Diseases
Aspartylglucosaminuria
Cholesterol Ester Storage Disease
Cystinosis
Lysosomal Storage Diseases, Nervous System
Mannosidase Deficiency Diseases
Mucopolysaccharidoses
Pycnodysostosis

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Lysosomal Storage Diseases" by people in this website by year, and whether "Lysosomal Storage Diseases" was a major or minor topic of these publications.

Bar chart showing 7 publications over 7 distinct years, with a maximum of 1 publications in 1998 and 2007 and 2009 and 2010 and 2016 and 2018 and 2023

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1998	1	0	1
2007	0	1	1
2009	0	1	1
2010	0	1	1
2016	1	0	1
2018	1	0	1
2023	1	0	1

Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles.

Nicoli ER, Huebecker M, Han ST, Garcia K, Munasinghe J, Lizak M, Latour Y, Yoon R, Glase B, Tyrlik M, Peiravi M, Springer D, Baker EH, Priestman D, Sidhu R, Kell P, Jiang X, Kolstad J, Kuhn AL, Shazeeb MS, Acosta MT, Proia RL, Platt FM, Tifft CJ. Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients. Mol Genet Metab. 2023 02; 138(2):107508.

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Comeau AM. Paradigm shifts in newborn screening? Genet Med. 2019 03; 21(3):534-535.

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Ortiz-Miranda S, Ji R, Jurczyk A, Aryee KE, Mo S, Fletcher T, Shaffer SA, Greiner DL, Bortell R, Gregg RG, Cheng A, Hennings LJ, Rittenhouse AR. A novel transgenic mouse model of lysosomal storage disorder. Am J Physiol Gastrointest Liver Physiol. 2016 11 01; 311(5):G903-G919.

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Bobst CE, Thomas JJ, Salinas PA, Savickas P, Kaltashov IA. Impact of oxidation on protein therapeutics: conformational dynamics of intact and oxidized acid-?-glucocerebrosidase at near-physiological pH. Protein Sci. 2010 Dec; 19(12):2366-78.

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Sahai I, Marsden D. Newborn screening. Crit Rev Clin Lab Sci. 2009; 46(2):55-82.

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Alexander BL, Ali RR, Alton EW, Bainbridge JW, Braun S, Cheng SH, Flotte TR, Gaspar HB, Grez M, Griesenbach U, Kaplitt MG, Ott MG, Seger R, Simons M, Thrasher AJ, Thrasher AZ, Yl?-Herttuala S. Progress and prospects: gene therapy clinical trials (part 1). Gene Ther. 2007 Oct; 14(20):1439-47.

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Jalanko A, Tenhunen K, McKinney CE, LaMarca ME, Rapola J, Autti T, Joensuu R, Manninen T, Sipil? I, Ikonen S, Riekkinen P, Ginns EI, Peltonen L. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet. 1998 Feb; 7(2):265-72.

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Moullier P, Salvetti A, Bohl D, Danos O, Heard JM. [Gene therapy in lysosomal diseases]. C R Seances Soc Biol Fil. 1996; 190(1):45-51.

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Moullier P, Salvetti A, Bohl D, Danos O, Heard JM. [Gene therapy of lysosomal diseases]. Arch Pediatr. 1996; 3 Suppl 1:65s-68s.

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Salvetti A, Moullier P, Cornet V, Brooks D, Hopwood JJ, Danos O, Heard JM. In vivo delivery of human alpha-L-iduronidase in mice implanted with neo-organs. Hum Gene Ther. 1995 Sep; 6(9):1153-9.

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