Results 11 to 20 of about 2,214,124 (236)
Diagnosing Inborn Errors of Lipid Metabolism with Proton Nuclear Magnetic Resonance Spectroscopy [PDF]
Clinical Chemistry, 2006 AbstractBackground: Many severe diseases are caused by defects in lipid metabolism. As a result, patients often accumulate unusual lipids in their blood and tissues, and proper identification of these lipids is essential for correct diagnosis. In this study, we investigated the potential use of proton nuclear magnetic resonance (1H-NMR) spectroscopy to
Oostendorp, M. van +3 more
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Inborn Errors of Long-Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism
Cell Reports, 2016 Summary: Inborn errors of metabolism (IEMs) occur with high incidence in human populations. Especially prevalent among these are inborn deficiencies in fatty acid β-oxidation (FAO), which are clinically associated with developmental neuropsychiatric ...
Zhigang Xie +4 more
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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
The Journal of Clinical Investigation, 2023 Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the inborn errors of sphingolipid metabolism in lysosomes. The dihydroceramide
Laura Planas-Serra +18 more
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A proposed nosology of inborn errors of metabolism [PDF]
, 2018 Purpose: We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. Methods: We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
Ferreira, Carlos R. +9 more
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Frontiers in Veterinary Science, 2015 A 1-year-old spayed female Shih Tzu presented for episodic abnormalities of posture and mentation. Neurologic examination was consistent with a bilaterally symmetric multifocal encephalopathy.
Vanessa R Biegen +3 more
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Journal of Lipid Research, 2017 Lipin-1 is a Mg2+-dependent phosphatidic acid phosphatase (PAP) that in mice is necessary for normal glycerolipid biosynthesis, controlling adipocyte metabolism, and adipogenic differentiation.
Michele Pelosi +13 more
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Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism [PDF]
Archives of Ophthalmology, 1976 Inborn errors of metabolism comprise the mucolipidoses and abnormalities in the metabolism of carbohydrates and of lipids. A large number have ocular manifestations, some of which are essential to the specific diagnoses. The carbohydrate syndromes include galactosemia, with its characteristic cataracts; glycogen storage, with surprisingly few ocular ...
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High-risk screening and diagnosis of inborn errors of metabolism : a practical guide for laboratories [PDF]
, 2018 Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step.
Giugliani, Roberto +2 more
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Sphingolipids: the nexus between Gaucher disease and insulin resistance
Lipids in Health and Disease, 2010 Sphingolipids constitute a diverse array of lipids in which fatty acids are linked through amide bonds to a long-chain base, and, structurally, they form the building blocks of eukaryotic membranes.
Fuller Maria
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Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions. [PDF]
PLoS ONE, 2018 Protein-protein interactions integrated with disease-gene associations represent important information for revealing protein functions under disease conditions to improve the prevention, diagnosis, and treatment of complex diseases.
Apichat Suratanee, Kitiporn Plaimas
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