 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
- 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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 | | 1998 | 1 | 0 | 1 | | 1999 | 0 | 1 | 1 | | 2003 | 2 | 0 | 2 | | 2004 | 1 | 0 | 1 | | 2006 | 2 | 0 | 2 | | 2007 | 0 | 1 | 1 | | 2008 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2020 | 1 | 1 | 2 | | 2021 | 2 | 1 | 3 |
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Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2022 03; 45(2):157-168.
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Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J, Tifft CJ, Gordon-Lipkin E. Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum. Mol Genet Genomic Med. 2021 06; 9(6):e1692.
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Kripps KA, Baker PR, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases. Mol Genet Metab. 2021 07; 133(3):231-241.
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Ko?ich V, Stabler S. Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism. J Nutr. 2020 10 01; 150(Suppl 1):2506S-2517S.
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Wright EL, Baker PR. Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen. J Clin Endocrinol Metab. 2020 03 01; 105(3).
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Merritt J, Tanguturi Y, Fuchs C, Cundiff AW. Medical Etiologies of Secondary Psychosis in Children and Adolescents. Child Adolesc Psychiatr Clin N Am. 2020 01; 29(1):29-42.
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Gallagher RC, Pollard L, Scott AI, Huguenin S, Goodman S, Sun Q. Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 07; 20(7):683-691.
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Schillaci LP, DeBrosse SD, McCandless SE. Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism. Pediatr Clin North Am. 2018 04; 65(2):209-230.
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Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF, Zhang J, Fakharzadeh S, Fennessey P, Keating BJ, Jiang H, Hakonarson H, Reed DR, Preti G. Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing. BMC Med Genet. 2017 Feb 15; 18(1):11.
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Qiao L, Wattez JS, Lee S, Nguyen A, Schaack J, Hay WW, Shao J. Adiponectin Deficiency Impairs Maternal Metabolic Adaptation to Pregnancy in Mice. Diabetes. 2017 05; 66(5):1126-1135.
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