Results 101 to 110 of about 210,000 (180)

Sideroblastic anemia: An underdiagnosed rare disease

Pediatric Hematology Oncology Journal, 2022
Swetha Palla, Pankaj Sharma, Prateek Bhatia, Deepak Bansal, Reena Das, Amita Trehan   +5 more
doaj   +1 more source

SIDEROBLASTIC ANAEMIA–A HITHERTO UNRCCGNIZED CAUSE OF UNEXPLAINED ANAEMIA

Pakistan Armed Forces Medical Journal, 2018
Objective: To assess the clinicopathological heterogeneity of sideroblastic anemia disorders characterized by the presence of ring sideroblasts in the bone marrow. Study Design: Descriptive study. Place and Duration of Study: Study was conducted
Kamran Nazir Ahmad, Shawana Kamran, Tariq Sarfraz, Khurshid Ali Bangash, Aniqa Bano, Farah Bano   +5 more
doaj  

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia. [PDF]

Haematologica, 2021
Colin E, Courtois G, Brouzes C, Pulman J, Rabant M, Rötig A, Taffin H, Lion-Lambert M, Fabrega S, Da Costa L, De Montalembert M, Salomon R, Hermine O, Couronné L.   +13 more
europepmc   +1 more source

A New Gain-of-Function NLRP1 Variant Is Associated with Inflammasome Activation and Disease Severity in SLC25A38 Congenital Sideroblastic Anemia Case Report. [PDF]

J Pers Med
Sánchez-Villalobos M, Baños EC, Martínez-Balsalobre E, Pinilla-Marquínez M, Navarro-Ramírez V, Macartney T, Hurtado-Navarro L, Hernández-García D, Blanquer M, Pelegrín P, Salido-Fierrez E, Pérez-Oliva AB.   +11 more
europepmc   +1 more source

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  

Sideroblastic Anemias

, 2018
Nathan T. Connell, Edward J. Benz
openaire   +1 more source

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia. [PDF]

Blood Adv, 2022
Morimoto Y, Chonabayashi K, Kawabata H, Okubo C, Yamasaki-Morita M, Nishikawa M, Narita M, Inagaki A, Nakanishi K, Nagao M, Takaori-Kondo A, Yoshida Y.   +11 more
europepmc   +1 more source

COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia. [PDF]

Respir Med Case Rep, 2021
Sayad E, Hammoud M, Khreis D, El Shami M, Matar M, Farah R.   +5 more
europepmc   +1 more source

[Sideroblastic anemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 1973
M, Tsukada, M, Shimizu
openaire   +4 more sources

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