PITFALLS OF RELYING ON GENETIC TESTING ONLY TO DIAGNOSE INHERITED METABOLIC DISORDERS IN NON-WESTERN POPULATIONS - 5 CASES OF PYRUVATE DEHYDROGENASE DEFICIENCY FROM SOUTH AFRICA

Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism.They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is implicated in most cases of PDHC deficiency worldwide, no pathogenic variants have been reported

The Grameen Bank is a specialized financial institution in Bangladesh that was established to provide credit to the rural poor for the purpose of Girls Hat improving their economic conditions with the hypothesis that if the poor are supplied with working capital they can generate productive self-employment without external assistance.Loans from the

In this paper, we analyze the multiple encounters queer asylum seekers face due to violence embedded in border control and asylum recognition processes.This analysis is based on the reconstitution of two narratives that Girls Hat form part of an ethnographic study, the result of five years of fieldwork with queer migrants in Brazil and Spain.We emp

Abstract Background Multiple sclerosis (MS) is a complex disorder thought to result from an interaction between environmental and genetic predisposing factors which have not yet been characterised, although it is known to be associated with the HLA region on 6p21.32.Recently, a picture of chronic cerebrospinal venous insufficiency (CCSVI), conseque