Results 61 to 70 of about 324,192 (243)
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors [PDF]
, 2018 OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in ...
et al +3 more
core +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
Clinical Case Reports, 2020 Hypocupremia due to zinc products can cause sideroblastic anemia and neutropenia and mimics other serious hematological disorders. Early consideration of the copper deficiency and a thorough clinical history can prevent unnecessary interventions.
Ahsan Wahab +3 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
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Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion [PDF]
, 1992 Documenta Ophthalmologica 1992, Volume 82, Issue 1-2, pp 73-79 Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion Dr H. J. Simonsz, K. Bärlocher, A.
A Rötig +7 more
core +8 more sources
Iron Overload: Pathophysiology, Diagnosis and Monitoring
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil +3 more
wiley +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
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
HSCB, a co-chaperone in mitochondrial iron-sulfur cluster biogenesis, is a novel candidate gene for congenital sideroblastic anemia [PDF]
, 2017 Congenital sideroblastic anemias (CSA) are inherited diseases resulting from defects in heme biosynthesis, mitochondrial iron-sulfur cluster (ISC) assembly, or mitochondrial translation.
Crispin, Andrew
core
European Journal of Immunology, Volume 56, Issue 4, April 2026.Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais +11 more
wiley +1 more source