Results 101 to 110 of about 170,027 (191)

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

Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in <i>ALAS2</i> Be the Culprit? [PDF]

Case Rep Pathol
Brown G, Brown S.
europepmc   +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  

Sideroblastic Anemias

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

A novel ALAS2 mutation causes congenital sideroblastic anemia

Mediterranean Journal of Hematology and Infectious Diseases, 2023
Kun Yang
doaj   +1 more source

Early-Onset TRNT1-Related SIFD Syndrome with an Additional Monoallelic C7 Variant: A Pediatric Case Report. [PDF]

Diagnostics (Basel)
Juganaru I, Cojocaru A, Grigorita A, Mang N, Paun A, Basaca DG, Grigorita LO, Cristun LI, Marginean O.   +8 more
europepmc   +1 more source

A diagnostic pitfall in iron-refractory microcytic hypochromic anemia with acquired ring sideroblasts initially treated as iron deficiency anemia-a case report. [PDF]

Front Med (Lausanne)
Liu X, Ma J, Song A, Yang S, Li M, Yang J.   +5 more
europepmc   +1 more source

Congenital sideroblastic anemia in a female [PDF]

American Journal of Hematology, 2018
Sophie, Hanina, Barbara J, Bain, Barnaby, Clark, D Mark, Layton   +3 more
openaire   +2 more sources

Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency. [PDF]

J Clin Immunol
Matea DM, Arghirescu ST, Chirita-Emandi A, Urtila P, Bataneant M.   +4 more
europepmc   +1 more source

Pearson syndrome: expanding the clinical spectrum of a mitochondrial cytopathy-a case report. [PDF]

J Med Case Rep
Faisal A, Waqas H, Masood H, Butt A, Rahman S, Hameed MS, Zaidi SRH, Iqbal A, Naveed MU.   +8 more
europepmc   +1 more source