 Carbohydrate Metabolism, Inborn Errors
"Carbohydrate Metabolism, Inborn Errors" 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.
Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.
| Descriptor ID |
D002239
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| MeSH Number(s) |
C16.320.565.202 C18.452.648.202
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Carbohydrate Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Carbohydrate Metabolism, Inborn Errors".
This graph shows the total number of publications written about "Carbohydrate Metabolism, Inborn Errors" by people in this website by year, and whether "Carbohydrate Metabolism, Inborn Errors" 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 |
|---|
| 2006 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 |
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Below are the most recent publications written about "Carbohydrate Metabolism, Inborn Errors" by people in Profiles.
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Chumpitazi BP, Lewis J, Cooper D, D'Amato M, Lim J, Gupta S, Miranda A, Terry N, Mehta D, Scheimann A, O'Gorman M, Tipnis N, Davies Y, Friedlander J, Smith H, Punati J, Khlevner J, Setty M, Di Lorenzo C. Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PLoS One. 2020; 15(5):e0231891.
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de Zoeten EF, Markowitz J, Loomes KM, Mamula P, Piccoli DA. A 9-month-old girl with chronic diarrhea. Medscape J Med. 2008; 10(8):195.
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Kahook MY, Mandava N, Bateman JB, Thomas JA. Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration. Br J Ophthalmol. 2006 Jan; 90(1):115-6.
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Tjoa S, Wenger DA, Fennessey PV. Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients. J Inherit Metab Dis. 1990; 13(2):187-94.
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Rosenberg LE, Desnick RJ, Bach G, van Diggelen OP, d'Azzo A, Mueller OT, Wolf B, Kraus JP, Velazquez A, Berman M, Chemke J. Workshop on inborn errors of metabolism. Prog Clin Biol Res. 1982; 103 Pt B:223-9.
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