Results 51 to 60 of about 5,388 (203)
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
From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family
Protein Science, Volume 35, Issue 4, April 2026.Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer +2 more
wiley +1 more source
The Eye on Mitochondrial Disorders. [PDF]
, 2015 Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A. +2 more
core +3 more sources
Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald +10 more
wiley +1 more source
Scientific Reports, 2022 Acquired sideroblastic anemia, characterized by bone marrow ring sideroblasts (RS), is predominantly associated with myelodysplastic syndrome (MDS). Although somatic mutations in splicing factor 3b subunit 1 (SF3B1), which is involved in the RNA splicing
Tetsuro Ochi +13 more
doaj +1 more source
Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis
HemaSphere, Volume 10, Issue 1, January 2026.Abstract Erythropoiesis is a finely regulated process ensuring continuous red blood cell production to maintain oxygen delivery. Disruptions in this process give rise to defective erythropoiesis, characterized by impaired lineage commitment and progenitor development, and ineffective erythropoiesis (IE), marked by expansion of erythroid progenitors ...
Sara El Hoss +3 more
wiley +1 more source
Pennies for Your Thoughts: A Case Series of Pancytopenia Due to Zinc-Induced Copper Deficiency in the Same Patient [PDF]
, 2019 A 47-year-old schizophrenic male presented on three separate occasions with pancytopenia and sideroblastic anemia due to copper deficiency from massive zinc penny ingestion.
Aaron, Cynthia K. +3 more
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Heavy Metal Contamination in Chocolates and Candies: Sources, Health Risks, and Analytical Insights
Journal of Chemistry, Volume 2026, Issue 1, 2026.The presence of heavy metals in chocolates and candies poses growing public health concerns, particularly for children who are frequent consumers. This review consolidates evidence on the occurrence, sources, toxicological impacts, and analytical monitoring of metals, including Pb, Cd, Hg, As, Cr, Ni, and Al, in confectionery products.
Mahmood Ahmed +12 more
wiley +1 more source
The Iron-man : A case-report [PDF]
, 2011 Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)The most common cause of microcytic anemia is iron deficiency.
Brynjar Viðarsson +2 more
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