 Metabolism, Inborn Errors
"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.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Descriptor ID |
D008661
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| MeSH Number(s) |
C16.320.565 C18.452.648
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| Concept/Terms |
Metabolism, Inborn Errors- Metabolism, Inborn Errors
- Errors Metabolism, Inborn
- Errors Metabolisms, Inborn
- Inborn Errors Metabolism
- Inborn Errors Metabolisms
- Metabolisms, Inborn Errors
- Metabolism Errors, Inborn
- Error, Inborn Metabolism
- Errors, Inborn Metabolism
- Inborn Metabolism Error
- Inborn Metabolism Errors
- Metabolism Error, Inborn
- Inborn Errors of Metabolism
- Metabolism Inborn Error
- Metabolism Inborn Errors
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Below are MeSH descriptors whose meaning is more general than "Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Metabolism, Inborn Errors".
- Metabolism, Inborn Errors
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Transport Disorders, Inborn
- Amyloidosis, Familial
- Brain Diseases, Metabolic, Inborn
- Carbohydrate Metabolism, Inborn Errors
- Cytochrome-c Oxidase Deficiency
- Hyperbilirubinemia, Hereditary
- Lipid Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Metal Metabolism, Inborn Errors
- Peroxisomal Disorders
- Porphyrias
- Progeria
- Purine-Pyrimidine Metabolism, Inborn Errors
- Renal Tubular Transport, Inborn Errors
- Steroid Metabolism, Inborn Errors
This graph shows the total number of publications written about "Metabolism, Inborn Errors" by people in this website by year, and whether "Metabolism, Inborn Errors" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
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| 2004 | 1 | 1 | 2 | | 2005 | 1 | 0 | 1 | | 2006 | 1 | 0 | 1 | | 2007 | 2 | 0 | 2 | | 2008 | 1 | 0 | 1 | | 2009 | 3 | 0 | 3 | | 2010 | 2 | 0 | 2 | | 2011 | 1 | 1 | 2 | | 2013 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 4 | 0 | 4 | | 2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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Ayyub OB, Hofherr S, Cusmano-Ozog K, Ah Mew N. Time-dependent negative bias in plasma ammonia samples in a clinical setting. Clin Chim Acta. 2017 Aug; 471:126-127.
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Viall S, Jain S, Chapman K, Ah Mew N, Summar M, Kirmse B. Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States. Mol Genet Metab. 2015 Dec; 116(4):226-30.
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Mew NA, Viall S, Kirmse B, Chapman KA. Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate. Adv Neonatal Care. 2015 Aug; 15(4):241-7; quiz E1-2.
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Smpokou P, Lanpher BC, Rosenbaum KN. Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate. Adv Neonatal Care. 2015 Aug; 15(4):248-52.
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Amin R, Eid L, Edvardsson VO, Fairbanks L, Moudgil A. An unusual cause of pink diapers in an infant: Questions and Answers. Pediatr Nephrol. 2016 Apr; 31(4):575, 577-80.
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Pitt JJ, Tzanakos N, Nguyen T. Newborn screening for guanidinoacetate methyl transferase deficiency. Mol Genet Metab. 2014 Mar; 111(3):303-304.
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Vockley J, Chapman KA, Arnold GL. Development of clinical guidelines for inborn errors of metabolism: commentary. Mol Genet Metab. 2013 Apr; 108(4):203-5.
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Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011 Oct 25; 77(17):1629-35.
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Prust MJ, Gropman AL, Hauser N. New frontiers in neuroimaging applications to inborn errors of metabolism. Mol Genet Metab. 2011 Nov; 104(3):195-205.
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Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar; 102(3):326-38.
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