Lipid Metabolism, Inborn Errors
"Lipid 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 the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
MeSH Number(s)
C16.320.565.398
C18.452.584.562
C18.452.648.398
Below are MeSH descriptors whose meaning is more general than "Lipid Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Lipid Metabolism, Inborn Errors".
This graph shows the total number of publications written about "Lipid Metabolism, Inborn Errors" by people in Harvard Catalyst Profiles by year, and whether "Lipid 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 |
|---|
| 1994 | 3 | 0 | 3 |
| 1995 | 3 | 1 | 4 |
| 1996 | 1 | 0 | 1 |
| 1997 | 2 | 0 | 2 |
| 1998 | 3 | 1 | 4 |
| 1999 | 2 | 1 | 3 |
| 2000 | 3 | 1 | 4 |
| 2001 | 3 | 0 | 3 |
| 2002 | 2 | 0 | 2 |
| 2003 | 3 | 0 | 3 |
| 2004 | 4 | 0 | 4 |
| 2005 | 1 | 0 | 1 |
| 2006 | 1 | 1 | 2 |
| 2008 | 2 | 1 | 3 |
| 2009 | 2 | 0 | 2 |
| 2010 | 1 | 2 | 3 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 2 | 2 | 4 |
| 2014 | 2 | 0 | 2 |
| 2015 | 1 | 2 | 3 |
| 2017 | 3 | 0 | 3 |
| 2018 | 1 | 0 | 1 |
| 2019 | 3 | 0 | 3 |
| 2020 | 2 | 1 | 3 |
| 2021 | 2 | 0 | 2 |
| 2022 | 4 | 0 | 4 |
| 2023 | 1 | 0 | 1 |
Below are the most recent publications written about "Lipid Metabolism, Inborn Errors" by people in Profiles.
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Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study. J Inherit Metab Dis. 2023 09; 46(5):943-955.
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Plant sterol hyperabsorption caused by uncontrolled diabetes in a patient with a heterozygous ABCG5 variant. J Diabetes Investig. 2022 Nov; 13(11):1934-1938.
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Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency. Nat Commun. 2022 06 27; 13(1):3669.
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Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example. Adv Ther. 2022 07; 39(7):3361-3377.
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Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program. Mol Genet Metab. 2022 06; 136(2):152-162.
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Hereditary myopathies associated with hematological abnormalities. Muscle Nerve. 2022 04; 65(4):374-390.
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Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders. Redox Biol. 2021 05; 41:101923.
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Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders. Genet Med. 2021 05; 23(5):816-829.
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Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn. Clin Chem. 2021 01 08; 67(1):327-330.
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Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. J Inherit Metab Dis. 2021 01; 44(1):253-263.