Results 71 to 80 of about 638 (159)

Novel AK-1 gene variants combined with thalassemia causing rare hereditary non-spherocytic hemolytic anemia in a Chinese family. [PDF]

Ann Hematol
Chen L, Wei X, Zheng C, Liu X, Huang J, Zhang M, Chen H, Que Y, Tang N, Yuan D, Zhong Q.   +10 more
europepmc   +1 more source

Unique Variant of Zieve Syndrome With a Normal Reticulocyte Count. [PDF]

J Med Cases, 2023
Vedire A, Imburgio S, Sanekommu H, Patel R, Johnson H, Taj S, Hossain M.   +6 more
europepmc   +1 more source

Mitapivat for Acquired Pyruvate Kinase Deficiency. [PDF]

Pediatr Blood Cancer
Al-Samkari H.
europepmc   +1 more source

Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination. [PDF]

Diagnostics (Basel), 2023
Kim N, Kim TY, Han JY, Park J.
europepmc   +1 more source

Hereditary disorders of ineffective erythropoiesis. [PDF]

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

Glosarium Kedokteran Hewan [PDF]

, 2002
Adiwimarta, Sri Sukesi, Nureni, Isti, Siregar, Emir A.   +2 more
core  

A Case of Horizontal Gaze Palsy With Progressive Scoliosis and G6PD Deficiency in a Child. [PDF]

Cureus
Kaur P, Yadav S.
europepmc   +1 more source

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency. [PDF]

Sci Rep, 2023
Zaninoni A, Marra R, Fermo E, Consonni D, Andolfo I, Marcello AP, Rosato BE, Vercellati C, Barcellini W, Iolascon A, Bianchi P, Russo R.   +11 more
europepmc   +1 more source

Gene Therapy for Erythroid Metabolic Inherited Diseases [PDF]

, 2013
Garate, Zita, Garcia-Bravo, Maria, Garcia-Gomez, Maria, Navarro, S., Quintana-Bustamante, Oscar, Segovia, Jose C.   +5 more
core   +2 more sources

From Mutation to Manifestation: Evaluation of a <i>PKLR</i> Gene Truncation Caused by Exon Skipping in a Schnauzer Terrier. [PDF]

Animals (Basel)
Ma TY, Kuo CJ, Liu PC.
europepmc   +1 more source