 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.
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
| Descriptor ID |
D016464
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| MeSH Number(s) |
C16.320.565.595 C18.452.648.595
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| 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
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Below are MeSH descriptors whose meaning is more general than "Lysosomal Storage Diseases".
Below are MeSH descriptors whose meaning is more specific than "Lysosomal Storage Diseases".
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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 2 | 0 | 2 | | 2016 | 0 | 1 | 1 | | 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles.
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Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. Am J Hum Genet. 2019 06 06; 104(6):1127-1138.
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Monta?o AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, ?oker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezg? F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet. 2016 06; 53(6):403-18.
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Lisi EC, McCandless SE. Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers. J Genet Couns. 2016 Apr; 25(2):373-84.
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Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):494-500.
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Feng GH, Bailin T, Oh J, Spritz RA. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet. 1997 May; 6(5):793-7.
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Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996 Nov; 14(3):300-6.
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Fukai K, Oh J, Frenk E, Almod?var C, Spritz RA. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet. 1995 Sep; 4(9):1665-9.
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