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Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA. Niss O, et al. Blood Cells Mol Dis. 2016 Oct;61:4-9. doi: 10.1016/j.bcmd.2016.07.003. Epub 2016 Jul 17. Blood Cells Mol Dis. 2016. PMID: 27667160 Free PMC article.
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding alpha-spectrin (SPTA1), beta-spectrin (SPTB), or protein 4.1R (EPB41). ...
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane …
Differential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/chemometrics.
Risoluti R , Caprari P , Gullifa G , Sorrentino F , Maffei L , Massimi S , Carcassi E , Materazzi S . Risoluti R , et al. Chem Commun (Camb). 2020 Jul 14;56(55):7557-7560. doi: 10.1039/d0cc02948c. Epub 2020 Jun 18. Chem Commun (Camb). 2020. PMID: 32555869
A multi-screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of hereditary hemolytic anemias. The novel test is able to simultaneously perform a simple and fast diagnosis of sickle cell anemia, thalassemia, …
A multi-screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of heredit …
Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants.
Christensen RD, Agarwal AM, Nussenzveig RH, Heikal N, Liew MA, Yaish HM. Christensen RD, et al. J Perinatol. 2015 May;35(5):357-61. doi: 10.1038/jp.2014.202. Epub 2014 Nov 6. J Perinatol. 2015. PMID: 25357094
OBJECTIVE: Neonates with undiagnosed hereditary spherocytosis (HS) are at risk for developing hazardous hyperbilirubinemia and anemia. ...Eight of the 11 were later confirmed positive for HS and one was confirmed positive for hereditary elliptocytosis (HE). A …
OBJECTIVE: Neonates with undiagnosed hereditary spherocytosis (HS) are at risk for developing hazardous hyperbilirubinemia and anemia …