5 research outputs found
Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia
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Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects
No full textThe Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
No full textObjectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study
