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 | 0 | 1 | 1 |
| 1998 | 1 | 0 | 1 |
| 1999 | 2 | 0 | 2 |
| 2001 | 1 | 0 | 1 |
| 2003 | 2 | 0 | 2 |
| 2004 | 1 | 0 | 1 |
| 2012 | 0 | 1 | 1 |
| 2017 | 2 | 0 | 2 |
| 2022 | 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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Congenital adiponectin deficiency mitigates high-fat-diet-induced obesity in gonadally intact male and female, but not in ovariectomized mice. Sci Rep. 2022 10 05; 12(1):16668.
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Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells. Arterioscler Thromb Vasc Biol. 2017 11; 37(11):1994-1999.
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Trends in hematopoietic stem cell transplant activity in Lebanon. Hematol Oncol Stem Cell Ther. 2017 Dec; 10(4):315-320.
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Seizures and X-linked intellectual disability. Eur J Med Genet. 2012 May; 55(5):307-12.
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Detection of fetal lactate with two-dimensional-localized proton magnetic resonance spectroscopy. Obstet Gynecol. 2004 Nov; 104(5 Pt 2):1208-10.
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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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Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Mol Genet Metab. 2003 Feb; 78(2):100-7.
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Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem. 2001; 47(7):1166-82.
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Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl. 1999 Dec; 88(432):45-7.
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Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999 Nov; 14 Suppl 1:S4-8.