Results 101 to 110 of about 511,787 (144)

Novel cellular models of SLC25A38-related congenital sideroblastic anemia shed light on mitochondrial physiology and pave the way for therapeutic strategies

Congenital sideroblastic anemia (CSA) is a heterogeneous group of inherited disorders of erythropoiesis characterized by iron overload in the mitochondria of developing erythroblasts.
Santoro, A, De Santis, S, Iolascon, A, Paradies, E, Palmieri, L, Andolfo, I, Fiermonte, G, Russo, R, Vozza, A, Marobbio, CM   +9 more
core   +1 more source

Abnormal Iron Incorporation, Survival, Protoporphyrin Content and Fluorescence of One Red Cell Population in Preleukemic Sideroblastic Anemia

The dimorphic blood picture in sideroblastic anemia suggests the coexistence of at least two types of erythrocyte, the populations with the smaller RBCs being responsible for the crucial abnormality, namely the impairment of iron incorporation into ...
Riedler, Georg F., Straub, P. Werner
core   +1 more source

Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH

Haematologica, 2008
Jonathan S. Caudill, Hamayun Imran, Julie C. Porcher, David P. Steensma   +3 more
doaj   +1 more source

Severe congenital hypochromic anemia with ringed sideroblasts [PDF]

, 2020
openaire   +1 more source

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked

Objective: Diamond–Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer.
Şule Ünal, Nihan Avcu Oral, Pelin Özlem Şimşek Kiper, Fatma Gümrük, Gulare Soltanova, Ünal, Şule, ŞİMŞEK KİPER, PELİN ÖZLEM, Soltanova, Gulare, ORAL, NİHAN, Avcu Oral, Nihan, Gümrük, Fatma, Özlem Şimşek Kiper, Pelin   +11 more
core   +1 more source

Congenital sideroblastic anemia.

Indian pediatrics, 2000
R, Das, A, Trehan, N, Marwaha, R K, Marwaha   +3 more
openaire   +1 more source

Congenital sideroblastic anemias: From molecular causes to treatment

HemaSphere, 2018
Sarah Ducamp, Mark D. Fleming
openaire   +2 more sources

Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship

Haematologica, 2013
Gang Liu, Shanshan Guo, Huiyuan Kang, Fuming Zhang, Yulin Hu, Lu Wang, Mianyang Li, Yongxin Ru, Clara Camaschella, Bing Han, Guangjun Nie   +10 more
doaj   +1 more source

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Haematologica, 2018
Simon Berhe, Matthew M. Heeney, Dean R. Campagna, John F. Thompson, Eric J. White, Tristen Ross, Roy W. A. Peake, Jeffery D. Hanrahan, Vilmarie Rodriguez, Deborah L. Renaud, Mrinal S. Patnaik, Eugenia Chang, Sylvia S. Bottomley, Mark D. Fleming   +13 more
doaj   +1 more source

Congenital Sideroblastic Anemia with Persistent Neutropenia in a Female Infant: A Case Report of Pyridoxine Responsiveness

Indian Journal of Medical and Paediatric Oncology
Hussnain Ashfaq, Hina Nazir, Ahmad Mujtaba, Maira Larosh   +3 more
doaj   +1 more source