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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 0 | 1 | 1 |
| 2002 | 2 | 0 | 2 |
| 2006 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2012 | 5 | 0 | 5 |
| 2015 | 2 | 0 | 2 |
| 2016 | 1 | 0 | 1 |
| 2017 | 3 | 1 | 4 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
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Below are the most recent publications written about "Carbohydrate Metabolism, Inborn Errors" by people in Profiles.
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Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154.
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Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PLoS One. 2020; 15(5):e0231891.
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The lysosomal disease caused by mutant VPS33A. Hum Mol Genet. 2019 08 01; 28(15):2514-2530.
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13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency. J Pediatr Gastroenterol Nutr. 2018 Jun; 66 Suppl 3:S61-S64.
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History of Acquired Monosaccharide Intolerance in Houston, Texas. J Pediatr Gastroenterol Nutr. 2018 06; 66 Suppl 3:S50-S51.
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Assessment of Lactose-Free Diet on the Phalangeal Bone Mineral Status in Italian Adolescents Affected by Adult-Type Hypolactasia. Nutrients. 2018 May 01; 10(5).
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Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab. 2018 03; 123(3):309-316.
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Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. PLoS One. 2017; 12(9):e0184022.
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Improved Starch Digestion of Sucrase-deficient Shrews Treated With Oral Glucoamylase Enzyme Supplements. J Pediatr Gastroenterol Nutr. 2017 08; 65(2):e35-e42.
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Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein. Nat Commun. 2017 01 20; 8:14152.