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
|
| MeSH Number(s) |
C16.320.565 C18.452.648
|
| 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
- 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 |
|---|
| 1994 | 1 | 0 | 1 |
| 1995 | 1 | 0 | 1 |
| 1996 | 0 | 1 | 1 |
| 1998 | 0 | 1 | 1 |
| 2000 | 0 | 1 | 1 |
| 2002 | 2 | 1 | 3 |
| 2003 | 1 | 0 | 1 |
| 2004 | 0 | 1 | 1 |
| 2009 | 0 | 1 | 1 |
| 2010 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 0 | 1 | 1 |
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Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):287-298.
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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018 11; 39(11):1569-1580.
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Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation. Mol Cell Proteomics. 2015 Nov; 14(11):3056-71.
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Effects of late gestational high-fat diet on body weight, metabolic regulation and adipokine expression in offspring. Int J Obes (Lond). 2013 Nov; 37(11):1481-9.
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Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet. 2011 Nov 11; 89(5):668-74.
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An ethical and policy analysis of elective transplantation for metabolic conditions diagnosed by newborn screening. J Pediatr. 2010 Jan; 156(1):139-44.
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In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes. Am J Physiol Endocrinol Metab. 2010 Mar; 298(3):E403-10.
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Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. J Clin Endocrinol Metab. 2004 May; 89(5):2477-83.
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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72.
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Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism. J Child Neurol. 2002 Dec; 17 Suppl 3:3S3-7; discussion 3S8.