Results 131 to 140 of about 158,381 (194)

Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia. [PDF]

Am J Hematol
Jiang D, Sampino EV, Rosenlind K, Campagna DR, DiTroia S, Fleming MD, Keel SB.   +6 more
europepmc   +1 more source

Hyperferritinemia as a Clue to Neuroendocrine Carcinoma. [PDF]

Cureus
Chao ES, Yoshikawa G, Qing X, Huang C.
europepmc   +1 more source

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number. [PDF]

Ann Hematol
Ammar M, Kmiha S, Maalej M, Felhi R, Kharrat M, Alila-Fersi O, Chouchen J, Maaloul I, Mkaouar-Rebai E, Kammoun T, Tlili A, Fakhfakh F.   +11 more
europepmc   +1 more source

Hereditary disorders of ineffective erythropoiesis. [PDF]

Blood Cells Mol Dis
King RA, Khoriaty R.
europepmc   +1 more source

Sideroblastic anemia.

Indian pediatrics, 2002
J, Menon, L, Mathews
openaire   +1 more source

Congenital-onset MLASA2 from a novel <i>YARS2</i> variant: A literature review. [PDF]

J Neuromuscul Dis
Eisenkölbl A, Lochmüller H, Carter MT, Hamilton LE, McMillan HJ.   +4 more
europepmc   +1 more source

Myelodysplasia in VEXAS syndrome. [PDF]

Blood Adv
Patel BA, Calvo KR, Reichard KK, Patnaik MM.   +3 more
europepmc   +1 more source

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in <i>YARS2</i>-associated disease and a review of the literature. [PDF]

Front Pediatr
Ferrera G, Segre G, Lamantea E, Ghezzi D, Rivelli M, Ardissone A.   +5 more
europepmc   +1 more source

Case Report: TRNT1 related autoinflammatory syndrome in a patient with primary ciliary dyskinesia. [PDF]

Front Immunol
Di Gennaro S, Della Casa F, Petraroli A, Borrelli M, Alessio M, Orlando F, Naddei R.   +6 more
europepmc   +1 more source