Pyruvate kinase deficiency: novel mutations and a better understanding of the genotype-to-phenotype correlation in Brazilian patientsā
Sign Up to like & getrecommendations! Published in 2018 at "Hematology, Transfusion and Cell Therapy"
DOI: 10.1016/j.bjhh.2017.08.009
Abstract: Over the past few years, the inherited disorders of erythrocyte metabolism have been the object of intensive research resulting in a better understanding of their molecular basis.1 Pyruvate kinase (PK) deficiency is the most common… read more here.
Keywords: deficiency novel; pyruvate kinase; better understanding; kinase deficiency ... See more keywords
NGLY1 deficiency: Novel variants and literature review.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104146
Abstract: NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is… read more here.
Keywords: ngly1 deficiency; deficiency novel; variants literature; novel variants ... See more keywords