Results 91 to 100 of about 3,045 (154)

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. [PDF]

open access: yesHum Mutat, 2021
Heeney MM   +26 more
europepmc   +1 more source

Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome. [PDF]

open access: yesFront Immunol, 2021
Mendonca LO   +10 more
europepmc   +1 more source

Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients. [PDF]

open access: yesSignal Transduct Target Ther, 2021
Fang R   +10 more
europepmc   +1 more source

Luspatercept enhances hemoglobin levels in a Chinese boy with congenital sideroblastic anemia: A case report. [PDF]

open access: yesWorld J Clin Cases
Li Y   +12 more
europepmc   +1 more source

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus. [PDF]

open access: yesHaematologica, 2020
Andolfo I   +10 more
europepmc   +1 more source

P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model. [PDF]

open access: yesInt J Mol Sci
Santoro A   +16 more
europepmc   +1 more source

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