Results 71 to 80 of about 2,906 (149)

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of <i>YARS2</i>. [PDF]

Int J Mol Sci
Villafán-Bernal JR, Rosas-Hernández J, García-Ortiz H, Martínez-Hernández A, Contreras-Cubas C, Guerrero-Contreras I, Lee H, Seo GH, Carnevale A, Barajas-Olmos F, Orozco L.   +10 more
europepmc   +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

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

Hyperferritinemia as a Clue to Neuroendocrine Carcinoma. [PDF]

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

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

Luspatercept for the treatment of transfusion-dependent non-severe aplastic anemia. [PDF]

Ann Hematol
Jia X, Zheng R, Hong Y, Ge H, Shen Y, Zhou Y, Yang X, Wu D.   +7 more
europepmc   +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

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source

Patra index and Mentzer index - A retrospective comparative study to differentiate Beta-Thalassemia Trait from iron deficiency anemia. [PDF]

J Family Med Prim Care
Patra S, Shome A, Patra CC, Mahto SK.
europepmc   +1 more source