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Lipid Metabolism, Inborn Errors (10)
- Hyperlipidemia, Familial Combined
- Hyperlipoproteinemia Type I
- Hyperlipoproteinemia Type II
- Hyperlipoproteinemia Type III
- Hyperlipoproteinemia Type IV
Articles on Lipid Metabolism, Inborn Errors
Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants.
Carnitine palmitoyltransferase-1A (CPT-1A) deficiency is a defect of fatty acid metabolism that presents as an autosomal recessive inheritance. Carnitine palmitoyltransferase-1A is the rate-limiting enzyme that allows the body to process fats to provide energy during times of fasting...
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.
Mitochondrial fatty acid oxidation disorders. Proceedings of an international symposium. October 2008. Fulda, Germany.
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
We have experienced sudden death in four children with MCADD despite their detection by newborn screening. The purpose of this report is to alert others to the danger of sudden death in MCADD even when it is detected by newborn screening, to identify the clinical symptoms that precede sudden death,...
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
Carnitine uptake defect (CUD) is an autosomal recessive fatty acid oxidation defect caused by a deficiency of the high-affinity carnitine transporter OCTN2. CUD patients may present with hypoketotic hypoglycemia, hepatic encephalopathy or dilated cardiomyopathy. Tandem mass spectrometry screening of...
Acylcarnitine analysis by tandem mass spectrometry.
Sweet and sour aspects of medium-chain acyl CoA dehydrogenase deficiency. Commentary on K. Yusuf et al.: Neonatal ventricular tachyarrhythmi...
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storag...
We report the cases of two siblings manifesting slowly progressive proximal and distal limb weakness in adulthood. One of the patients had dilated cardiomyopathy, hearing loss and short stature. Muscle specimens of the 2 patients revealed muscular dystrophic features with massive lipid droplets and...
Measurement of plasma/serum acylcarnitines using tandem mass spectrometry.
We describe a method for the analysis of acylcarnitines in plasma or serum samples using electrospray ionization tandem mass spectrometry....
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease.
We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination of the peripheral smear revealed lipid vacuoles in the leucocytes consistent with Jordan's anomaly, which was confirmed by transmission electron microscopy. Liver biopsy reveal...