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.
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
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 Harvard Catalyst Profiles by year, and whether "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 |
|---|
| 1993 | 1 | 0 | 1 |
| 1994 | 2 | 0 | 2 |
| 1995 | 0 | 2 | 2 |
| 1996 | 2 | 3 | 5 |
| 1997 | 3 | 1 | 4 |
| 1998 | 2 | 0 | 2 |
| 1999 | 1 | 3 | 4 |
| 2000 | 5 | 0 | 5 |
| 2001 | 3 | 2 | 5 |
| 2002 | 5 | 0 | 5 |
| 2003 | 9 | 3 | 12 |
| 2004 | 2 | 1 | 3 |
| 2005 | 5 | 1 | 6 |
| 2006 | 6 | 3 | 9 |
| 2007 | 4 | 3 | 7 |
| 2008 | 3 | 3 | 6 |
| 2009 | 3 | 2 | 5 |
| 2010 | 2 | 1 | 3 |
| 2011 | 2 | 1 | 3 |
| 2012 | 6 | 0 | 6 |
| 2013 | 3 | 5 | 8 |
| 2014 | 4 | 1 | 5 |
| 2015 | 2 | 0 | 2 |
| 2016 | 3 | 2 | 5 |
| 2017 | 3 | 3 | 6 |
| 2018 | 5 | 2 | 7 |
| 2019 | 4 | 2 | 6 |
| 2020 | 4 | 1 | 5 |
| 2021 | 3 | 0 | 3 |
| 2022 | 3 | 0 | 3 |
Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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A Reassessment of the Causal Effects of Dysglycemia on Atherosclerotic and Thrombotic Events. Diabetes. 2022 10 01; 71(10):2075-2077.
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Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis. J Pediatr Hematol Oncol. 2023 01 01; 45(1):41-43.
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Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency. Am J Med Genet A. 2022 Sep; 188(9):2760-2765.
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Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism. J Pediatr. 2022 07; 246:116-122.e1.
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Quality of care metrics for patients with inborn errors of metabolism. Mol Genet Metab. 2022 05; 136(1):1-3.
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Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Pediatr Emerg Care. 2021 Dec 01; 37(12):e1154-e1159.
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Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Mol Genet Genomic Med. 2021 04; 9(4):e1621.
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Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 06; 29(6):998-1007.
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Retinopathy of Transcobalamin II Deficiency: Long-Term Stability with Treatment. Ophthalmology. 2021 07; 128(7):992.
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Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient. Mol Genet Genomic Med. 2020 11; 8(11):e1507.