Results 81 to 90 of about 1,160,233 (174)

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.

, 2000
X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2) gene. An elderly woman who presented with an acquired sideroblastic anemia is studied.
CAZZOLA, MARIO, Bishop DF, Rosti V, BERGAMASCHI, GAETANO, Cerani P, May A   +5 more
core  

Estimation of ferrokinetic parameters by a mathematical model in patients with primary acquired sideroblastic anaemia.

, 1978
Ferrokinetic parameters were estimated in eight patients with primary acquired sideroblastic anaemia (PASA) by means of a mathematical model of iron kinetics.
CAZZOLA, MARIO, Morandi S, Stefanelli M, Perugini S., Barosi G   +4 more
core   +1 more source

Erworbene vitamin-B₆-responsive, primäre sideroblastische Anämie, ein Enzymdefekt der Hämsynsthese

, 1981
The activity of delta-aminolevulinic acid synthetase (ALAS), the rate-limiting enzyme in heme synthesis, has been found to be markedly reduced (13% of controls) in erythroblasts of a patient with acquired, primary sideroblastic anemia.
Giger, U., Fehr, J., Meier, P. J., Brändli, O.   +3 more
core  

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation

, 2012
: X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13.
Vermeersch, Pieter, Marc D’Hooghe, D' Hooghe, Marc, Mortier, Geert, Pieter Vermeersch, Geert Mortier, Dominik Selleslag, D'Hooghe, Marc, Bekri, Soumeya, Rudy Van Coster, Van Coster, Rudy, Selleslag, Dominik, Soumeya Bekri, Johan Billiet, Billiet, Johan   +14 more
core   +1 more source

Sickle Hemoglobin and Sideroblastic Anemia

, 2002
dimorphic smear in patient with Hb SS and acute onset of sideroblastic ...
Lawrence, Christine
core  

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

Sideroblastic anemias

, 2006
Chapter on pathogenesis and clinical features of sideroblastic anemias. Males with hereditary X-linked sideroblastic anemia may present in the first two decades of life with symptoms of anemia, or later with either anemia and/or symptoms and signs of ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
core  

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

, 2013
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and
Marques, Laura, Major-Cook, N., Kannengiesser, Caroline, Hughes, Stephen, Klaassen, R. J., Bottomley, Sylvia S, Wiseman, D. H., Thuret, Isabelle, Giardina, P. J., Thompson, Alexis A, Heeney, Matthew M, Marques, L., Bonney, D. K., Chakraborty, P., Kannengiesser, C., Klaassen, Robert J, Chakraborty, Pranesh, Fleming, M. D., Thompson, A. A., Bonney, Denise K, Wiseman, Daniel H; id_orcid, Wynn, R. F., Fleming, Mark D, Giardina, Patricia J, May, Alison, Geraghty, Michael T, Powell, Colin, Heeney, M. M., Jolles, Stephen, Connor, Philip, Bottomley, S. S., Wynn, Robert F, Major-Cook, Nathalie, Hughes, S., Geraghty, M. T., Thuret, I.   +35 more
core   +1 more source

Acquired idiopathic sideroblastic anemia [PDF]

, 2020
openaire   +1 more source

[Research progress on clonal acquired sideroblastic anemia]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2017
Long ZB, Du YL, Han B.
europepmc   +1 more source