Metabolic Diseases
"Metabolic 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.
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Descriptor ID |
D008659
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MeSH Number(s) |
C18.452
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Concept/Terms |
Metabolic Diseases- Metabolic Diseases
- Thesaurismosis
- Thesaurismoses
- Diseases, Metabolic
- Disease, Metabolic
- Metabolic Disease
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Below are MeSH descriptors whose meaning is more general than "Metabolic Diseases".
Below are MeSH descriptors whose meaning is more specific than "Metabolic Diseases".
This graph shows the total number of publications written about "Metabolic Diseases" by people in this website by year, and whether "Metabolic 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 |
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2005 | 1 | 0 | 1 | 2007 | 0 | 2 | 2 | 2008 | 1 | 1 | 2 | 2012 | 0 | 1 | 1 | 2014 | 0 | 1 | 1 | 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Metabolic Diseases" by people in Profiles.
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Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Baric I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S. Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2016 05; 39(3):341-353.
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Summar ML, Endo F, Kölker S. On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):105-8.
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Buyske S, Wu Y, Carty CL, Cheng I, Assimes TL, Dumitrescu L, Hindorff LA, Mitchell S, Ambite JL, Boerwinkle E, Buzkova P, Carlson CS, Cochran B, Duggan D, Eaton CB, Fesinmeyer MD, Franceschini N, Haessler J, Jenny N, Kang HM, Kooperberg C, Lin Y, Le Marchand L, Matise TC, Robinson JG, Rodriguez C, Schumacher FR, Voight BF, Young A, Manolio TA, Mohlke KL, Haiman CA, Peters U, Crawford DC, North KE. Evaluation of the metabochip genotyping array in African Americans and implications for fine mapping of GWAS-identified loci: the PAGE study. PLoS One. 2012; 7(4):e35651.
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Ahmed N, Leung KS, Rosenblatt H, Bollard CM, Gottschalk S, Myers GD, Carrum G, Heslop HE, Brenner MK, Krance RA. Successful treatment of stem cell graft failure in pediatric patients using a submyeloablative regimen of campath-1H and fludarabine. Biol Blood Marrow Transplant. 2008 Nov; 14(11):1298-304.
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Tuchman M, Caldovic L, Daikhin Y, Horyn O, Nissim I, Nissim I, Korson M, Burton B, Yudkoff M. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr Res. 2008 Aug; 64(2):213-7.
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Baum VC. When nitrous oxide is no laughing matter: nitrous oxide and pediatric anesthesia. Paediatr Anaesth. 2007 Sep; 17(9):824-30.
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Bruzzi C, Bader A, Luban NL, Przygodzki R, Ahmed AA. Pathology teach and tell: fibrinogen storage disease in a child with hypofibrinogenemia and decreased ceruloplasmin. Fetal Pediatr Pathol. 2007 Mar-Apr; 26(2):101-5.
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Pearl PL, Bennett HD, Khademian Z. Seizures and metabolic disease. Curr Neurol Neurosci Rep. 2005 Mar; 5(2):127-33.
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