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
core
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]
, 2015 Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E +13 more
core +2 more sources
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias
International Journal of Laboratory Hematology, Volume 46, Issue 4, Page 595-605, August 2024.This review focuses on recent advancements in the field of hereditary dyserythropoietic anemias and provides a gene‐based classification of this heterogeneous group of genetic disorders. Abstract Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are rare disorders disrupting normal erythroid lineage development ...
Roberta Russo +4 more
wiley +1 more source
Mitochondrial DNA with a Large-Scale Deletion Causes Two Distinct Mitochondrial Disease Phenotypes in Mice [PDF]
, 2013 Studies in patients have suggested that the clinical phenotypes of some mitochondrial diseases might transit from one disease to another (e.g., Pearson syndrome [PS] to Kearns-Sayre syndrome) in single individuals carrying mitochondrial (mt) DNA with a ...
Hayashi Jun-Ichi +6 more
core +1 more source
Three‐generation female cohort with macrocytic anemia and iron overload
American Journal of Hematology, Volume 100, Issue 1, Page 133-138, January 2025.
Alexander A. Boucher +5 more
wiley +1 more source
American Journal of Hematology, Volume 99, Issue 6, Page 1066-1076, June 2024.Abstract Haploidentical stem cell transplantation (haplo‐SCT) represents the main alternative for children with inherited bone marrow failure syndrome (I‐BMF) lacking a matched donor. This retrospective study, conducted on behalf of the EBMT SAAWP and PDWP, aims to report the current outcomes of haplo‐SCT in I‐BMFs, comparing the different in vivo and ...
Stefano Giardino +27 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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Iron Loading and Overloading due to Ineffective Erythropoiesis [PDF]
, 2010 Erythropoiesis describes the hematopoietic process of cell proliferation and differentiation that results in the production of mature circulating erythrocytes.
Miller, Jeffery L., Tanno, Toshihiko
core +3 more sources
Transfer RNA and syndromic sideroblastic anemia [PDF]
Blood, 2014 In this issue of Blood, Chakraborty et al1 reported loss-of-function of TRNT1 gene causes a syndromic form of congenital sideroblastic anemia (SA) associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). This new syndrome, inherited with a recessive pattern, was described in this Journal 1 year ago studying 12 subjects ...
openaire +4 more sources
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. [PDF]
, 2009 We studied patients with myeloid neoplasm associated with ringed sideroblasts and/or thrombocytosis. The combination of ringed sideroblasts 15% or greater and platelet count of 450 x 10(9)/L or greater was found in 19 subjects fulfilling the diagnostic ...
Boultwood J +15 more
core +1 more source