Results 131 to 140 of about 298,625 (226)

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

COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia

Respiratory Medicine Case Reports, 2021
E. Sayad, Mohamad K Hammoud, Dima Khreis, Maher El Shami, Maroun Matar, R. Farah   +5 more
semanticscholar   +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

Pyrazinamide‐induced sideroblastic anemia [PDF]

American Journal of Hematology, 2011
Giuseppe, Colucci, Tobias, Silzle, Max, Solenthaler   +2 more
openaire   +2 more sources

Interface dermatitis in a patient with TRNT1 deficiency: A case report. [PDF]

JAAD Case Rep
Gauger AJ, Del Mundo DY, Haggstrom AN, Alomari AK.   +3 more
europepmc   +1 more source

Vitamin B6 Deficiency May Not Always Present As Microcytic Hypochromic Anemia. [PDF]

Cureus
Nakao S, Nakaseko C, Ishii T, Terai K, Shimizu N.   +4 more
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

Allogeneic hematopoietic cell transplantation for autoinflammatory disorders. [PDF]

Int J Hematol
Kanegane H, Miyamoto S, Kamiya T, Ohnishi H, Nishikomori R, Gennery AR, Mori T.   +6 more
europepmc   +1 more source

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition. [PDF]

Orphanet J Rare Dis
Ventura I, Revert-Ros F, Revert F, Prieto-Ruiz JÁ, Hernández-Andreu JM.   +4 more
europepmc   +1 more source

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency [PDF]

, 2014

core   +1 more source