Results 51 to 60 of about 298,625 (226)
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]
, 2017 Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania +14 more
core +2 more sources
SAGE Open Medical Case Reports, 2019 This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and ...
Abdulhadi Jfri +5 more
doaj +1 more source
Haematologica, 2011 Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser +16 more
doaj +1 more source
Haematologica, 2014 Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia.
Kiriko Kaneko +6 more
doaj +1 more source
Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway [PDF]
, 2018 Iron-sulfur clusters are evolutionarily conserved biological structures which play an important role as cofactor for multiple enzymes in eukaryotic cells.
Van Coster, Rudy, Vanlander, Arnaud
core +2 more sources
Frontiers in Immunology, 2021 Since the first description of the syndrome of sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD), clinical pictures lacking both neurological and hematological manifestations have been reported.
L. Mendonça +10 more
semanticscholar +1 more source
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up
Molecular Genetics and Metabolism Reports, 2019 Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from
Jeremy Woods, Stephen Cederbaum
doaj +1 more source
Signal Transduction and Targeted Therapy, 2021 Dear Editor, X-linked sideroblastic anemia (XLSA), which is the most common genetic form of congenital sideroblastic anemia, is typically characterized by reduced heme synthesis and the presence of bone marrow (BM) ring sideroblasts containing pathologic
Riguo Fang +9 more
semanticscholar +1 more source
Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
Frontiers in Pediatrics, 2023 The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs.
Cui-Jie Wei +8 more
doaj +1 more source
Zinc containing dental fixative causing copper deficiency myelopathy [PDF]
, 2017 A 62-year-old male, previously well, was referred to neurology clinic following 6 months history of worsening lower limbs instability, paraesthesia, pain and weakness rendering him housebound.
Abdul-Rahim, Azmil H. +2 more
core +1 more source