CHARACTERIZATION OF 3-HYDROXYISOBUTYRYL-COA HYDROLASE (HIBCH) DEFICIENCY IN BAHRAIN: A RETROSPECTIVE COHORT STUDY

Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study

Background: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare inborn error of valine catabolism associated with progressive neurological impairment.This retrospective cohort study aimed to characterize the clinical, biochemical, genetic, and respiratory chain profiles of HIBCH deficiency patients in Bahrain.Methods: Eight HIBCH deficie

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Case report: retroperitoneal aspergilloma in a patient with rheumatoid arthritis presenting as malignant tumor

Abstract Background Aspergillosis in patients with impaired immunity usually presents with invasive pulmonary infection and dissemination to a variety of organs via hematogenous spread.Aspergilloma in the retroperitoneal cavity is a rare disease with only a few cases reported in the literature.To the best of our knowledge, the present case of a ret

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