Results 141 to 150 of about 324,192 (243)

The obstetric hematology joint clinic in Qatar: experience since 2020. [PDF]

Ther Adv Reprod Health
Elkourashy SA, Elmallahi N, Bappa L, Elshafey N, Jacob S, Musa SO, Mathew A, Abuyaqoub S.   +7 more
europepmc   +1 more source

Biallelic IARS2 mutations presenting as sideroblastic anemia

Haematologica, 2020
Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann   +15 more
doaj   +1 more source

Hyperferritinemia as a Clue to Neuroendocrine Carcinoma. [PDF]

Cureus
Chao ES, Yoshikawa G, Qing X, Huang C.
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

Sideroblastic Anemias

, 2018
Nathan T. Connell, Edward J. Benz
openaire   +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

Body iron metabolism and pathophysiology of iron overload [PDF]

, 2008
Yutaka Kohgo, Katsuya Ikuta, Takaaki Ohtake, Yoshihiro Torimoto, Junji Kato, NC Andrews, AT McKie, D Trinder, PJ Sargent, ZI Cabantchik, NF Olivieri, E Angelucci, K Ikuta, JP Liuzzi, M Schranzhofer, MD Fleming, CH Park, J Inamura, T Ganz, KR Bridle, A Pietrangelo, S Gardenghi, M Cazzola, W Breuer, AM Koorts, PM Harrison, A Jacobs, A Jacobs, A Piperno, H Saito, R Galanello, MD Cappellini, PD Jensen, M Takatoku, N Gattermann, NF Olivieri, JA Long Jr, GM Brittenham, LJ Anderson, RR Crichton, AW Yen, A Pietrangelo, JN Feder, M Franchini, HL Bonkovsky, MG Zurlo, JH McGowan, LJ Anderson, PT Telfer, NF Olivieri, EB Fung   +50 more
core   +1 more source

Hereditary disorders of ineffective erythropoiesis. [PDF]

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

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

Turkish Journal of Hematology, 2017
Çiğdem Seher Kasapkara, Leyla Tümer, Nadia Zanetti, Fatih Ezgü, Eleonora Lamantea, Massimo Zeviani   +5 more
doaj   +1 more source

Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature. [PDF]

Case Rep Pediatr
Degroot GN, Empain A, Dedeken L, Demulder A, Demulder A, Rozen L.   +5 more
europepmc   +1 more source