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Hereditary myopathies associated with hematological abnormalities.
Beecher G, Fleming MD, Liewluck T. Beecher G, et al. Muscle Nerve. 2022 Apr;65(4):374-390. doi: 10.1002/mus.27474. Epub 2022 Jan 5. Muscle Nerve. 2022. PMID: 34985130 Review.
Recurrent rhabdomyolysis in certain glycolytic enzymopathies co-occurs with hemolytic anemia, often chronic and mild in phosphofructokinase and phosphoglycerate kinase deficiencies, or acute and fever-associated in aldolase-A and triosephosphate isomerase deficie …
Recurrent rhabdomyolysis in certain glycolytic enzymopathies co-occurs with hemolytic anemia, often chronic and mild in phosphofructokinase …
Child Neurology: Triosephosphate isomerase deficiency.
Harris C, Nelson B, Farber D, Bickel S, Huxol H, Asamoah A, Morton R. Harris C, et al. Neurology. 2020 Dec 15;95(24):e3448-e3451. doi: 10.1212/WNL.0000000000010745. Epub 2020 Sep 1. Neurology. 2020. PMID: 32873690 No abstract available.
Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis.
Pekrun A, Neubauer BA, Eber SW, Lakomek M, Seidel H, Schröter W. Pekrun A, et al. Clin Genet. 1995 Apr;47(4):175-9. doi: 10.1111/j.1399-0004.1995.tb03955.x. Clin Genet. 1995. PMID: 7628118
Most patients die within the first 6 years. We examined a family with severe triosephosphate isomerase deficiency. The 1-year-old index patient suffered from hemolytic anemia, neuromuscular impairment and pneumonias, with the necessity of intermitten mechanic …
Most patients die within the first 6 years. We examined a family with severe triosephosphate isomerase deficiency. The …
Triosephosphate isomerase deficiency: a patient with Val231Met mutation.
Serdaroglu G, Aydinok Y, Yilmaz S, Manco L, Ozer E. Serdaroglu G, et al. Pediatr Neurol. 2011 Feb;44(2):139-42. doi: 10.1016/j.pediatrneurol.2010.08.016. Pediatr Neurol. 2011. PMID: 21215915
Triosephosphate isomerase deficiency constitutes a rare autosomal recessive disorder, characterized by hemolytic anemia, neurodegeneration, and recurrent bacterial infections. It is the most severe glycolytic enzyme defect associated with progressive neurolog …
Triosephosphate isomerase deficiency constitutes a rare autosomal recessive disorder, characterized by hemolytic anemia …
The E104D mutation increases the susceptibility of human triosephosphate isomerase to proteolysis. Asymmetric cleavage of the two monomers of the homodimeric enzyme.
De La Mora-De La Mora I, Torres-Larios A, Mendoza-Hernández G, Enriquez-Flores S, Castillo-Villanueva A, Mendez ST, Garcia-Torres I, Torres-Arroyo A, Gómez-Manzo S, Marcial-Quino J, Oria-Hernández J, López-Velázquez G, Reyes-Vivas H. De La Mora-De La Mora I, et al. Biochim Biophys Acta. 2013 Dec;1834(12):2702-11. doi: 10.1016/j.bbapap.2013.08.012. Epub 2013 Sep 20. Biochim Biophys Acta. 2013. PMID: 24056040