Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2017.11.052
Abstract: Mucolipidosis type III gamma (MLIII gamma) is a lysosomal storage disease characterized by joint stiffness, mild coarse face and corneal clouding, which becomes recognizable usually in childhood. Biallelic mutations in the GNPTG gene, which encode… read more here.
Keywords: phenotype; iii gamma; genotype phenotype; eleven patients ... See more keywords
Outcomes after empiric radiation therapy for leukemic infiltrates of the lung: A single institution experience.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2018.36.34_suppl.225
Abstract: 225 Background: Acute leukemias (AL) may present with variable clinical findings, from incidental discovery to respiratory distress or obtundation. However, patients may progress rapidly, requiring emergent treatments including leukophoresis, chemotherapy or radiation. There is little… read more here.
Keywords: radiation therapy; wbc count; eleven patients; empiric radiation ... See more keywords
Diagnostic challenge in a series of eleven patients with hyper IgE syndromes
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.1057679
Abstract: Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE levels. Autosomal dominant HIES caused by loss of… read more here.
Keywords: diagnostic challenge; hyper ige; eleven patients; ige syndromes ... See more keywords