Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia
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DOI: 10.1007/s12185-020-02842-9
Abstract: Congenital dysfibrinogenemia (CD) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three fibrinogen genes. Patients with CD may experience bleeding and thrombosis, but… read more here.
Keywords: comparison clinical; clinical phenotype; congenital dysfibrinogenemia; laboratory ... See more keywords
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study
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DOI: 10.3389/fped.2020.569389
Abstract: Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis… read more here.
Keywords: stone; etiology; diversity phenotype; phenotype genetic ... See more keywords