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
A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology
Cases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of
Huijun Qin, Yuan He, Zaixiang Xie
doaj +1 more source
La Traducció genètica mitocondrial i malalties associades [PDF]
En humans, com en la majoria d'organismes eucariotes, la síntesi proteica té lloc simultàniament al citoplasma i en orgànuls que posseeixen un genoma propi.
Guitart, Tanit +1 more
core
Trace Element Status (Iron, Zinc, Copper, Chromium, Cobalt, and Nickel) in Iron-Deficiency Anaemia of Children under 3 Years [PDF]
Мета. Визначити вміст мікроелементів і етіологічні фактори розвитку мікроелементного дефіциту у дітей із залізодефіцитною анемією (ЗДА) у віці від 0 до 3 років. Матеріали і методи. Були обстежені 30 пацієнтів університетської лікарні, м.Плевен, Болгарія -
Angelova, Maria Georgieva +15 more
core +1 more source
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome [PDF]
Lisa G. Riley +11 more
openalex +1 more source
Iron overload due to X-linked sideroblastic anemia in an African American man [PDF]
Timothy S. Collins, Murat O. Arcasoy
openalex +1 more source
Survey of Human Mitochondrial Diseases Using New Genomic/Proteomic Tools [PDF]
BACKGROUND. We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and characterizing the context of protein mutations that give rise to human ...
Mohr, Scott C. +2 more
core +2 more sources
Familial sideroblastic anemia associated with cardiac atrial septal defect [PDF]
Masaki Mori +6 more
openalex +1 more source

