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.
No definition found.
MeSH Number(s)
C16.320.565.202
C18.452.648.202
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 Harvard Catalyst Profiles by year, and whether "Carbohydrate Metabolism, Inborn Errors" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1996 | 1 | 0 | 1 |
| 1998 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2010 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 0 | 2 | 2 |
| 2018 | 1 | 2 | 3 |
| 2019 | 1 | 0 | 1 |
| 2020 | 3 | 0 | 3 |
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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Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure. Arch Biochem Biophys. 2020 08 15; 689:108473.
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Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis. Eur J Clin Nutr. 2020 09; 74(9):1290-1298.
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Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome. Dig Dis Sci. 2020 02; 65(2):534-540.
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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. J Inherit Metab Dis. 2019 01; 42(1):147-158.
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Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. 2019 05; 34(5):598-613.
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Serine Synthesis via PHGDH Is Essential for Heme Production in Endothelial Cells. Cell Metab. 2018 10 02; 28(4):573-587.e13.
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Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency. Dis Model Mech. 2018 05 21; 11(5).
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Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. Eur J Paediatr Neurol. 2018 May; 22(3):544-547.
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Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy. Neurology. 2017 09 12; 89(11):1195-1196.