These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. Fukuda MN; Masri KA; Dell A; Luzzatto L; Moremen KW Proc Natl Acad Sci U S A; 1990 Oct; 87(19):7443-7. PubMed ID: 2217175 [TBL] [Abstract][Full Text] [Related]
5. Congenital dyserythropoietic anemias. Marks PW; Mitus AJ Am J Hematol; 1996 Jan; 51(1):55-63. PubMed ID: 8571938 [TBL] [Abstract][Full Text] [Related]
6. Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). Denecke J; Kranz C; Nimtz M; Conradt HS; Brune T; Heimpel H; Marquardt T Glycoconj J; 2008 May; 25(4):375-82. PubMed ID: 18166993 [TBL] [Abstract][Full Text] [Related]
7. Short report: erythrocyte membranes from a patient with congenital dyserythropoietic anaemia type I (CDA-I) show identical, although less pronounced, glycoconjugate abnormalities to those from patients with CDA-II (HEMPAS). Zdebska E; Woźniewicz B; Adamowicz-Salach A; Kościelak J Br J Haematol; 2000 Sep; 110(4):998-1001. PubMed ID: 11054095 [TBL] [Abstract][Full Text] [Related]
8. Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: association of low level of membrane-bound form of galactosyltransferase. Fukuda MN; Masri KA; Dell A; Thonar EJ; Klier G; Lowenthal RM Blood; 1989 Apr; 73(5):1331-9. PubMed ID: 2495036 [TBL] [Abstract][Full Text] [Related]
9. Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. Fukuda MN; Dell A; Scartezzini P J Biol Chem; 1987 May; 262(15):7195-206. PubMed ID: 2953718 [TBL] [Abstract][Full Text] [Related]
10. Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers. Zdebska E; Mendek-Czajkowska E; Ploski R; Woêniewicz B; Koscielak J Haematologica; 2002 Feb; 87(2):126-30. PubMed ID: 11836161 [TBL] [Abstract][Full Text] [Related]
11. [Diagnosis and genetics of congenital dyserythropoietic anemias (CDA)]. Rössler J; Havers W Klin Padiatr; 2000; 212(4):153-8. PubMed ID: 10994542 [TBL] [Abstract][Full Text] [Related]
12. Structural and functional consequences of an N-glycosylation mutation (HEMPAS) affecting human erythrocyte membrane glycoproteins. Kameh H; Landolt-Marticorena C; Charuk JH; Schachter H; Reithmeier RA Biochem Cell Biol; 1998; 76(5):823-35. PubMed ID: 10353717 [TBL] [Abstract][Full Text] [Related]
14. Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS). Fukuda MN; Gaetani GF; Izzo P; Scartezzini P; Dell A Br J Haematol; 1992 Dec; 82(4):745-52. PubMed ID: 1482662 [TBL] [Abstract][Full Text] [Related]
15. Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). Charuk JH; Tan J; Bernardini M; Haddad S; Reithmeier RA; Jaeken J; Schachter H Eur J Biochem; 1995 Jun; 230(2):797-805. PubMed ID: 7607254 [TBL] [Abstract][Full Text] [Related]
16. Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects. Iolascon A; D'Agostaro G; Perrotta S; Izzo P; Tavano R; Miraglia del Giudice B Haematologica; 1996; 81(6):543-59. PubMed ID: 9009444 [TBL] [Abstract][Full Text] [Related]
18. Golgi alpha-mannosidase II deficiency in vertebrate systems: implications for asparagine-linked oligosaccharide processing in mammals. Moremen KW Biochim Biophys Acta; 2002 Dec; 1573(3):225-35. PubMed ID: 12417404 [TBL] [Abstract][Full Text] [Related]
19. Glycoconjugate abnormalities in patients with congenital dyserythropoietic anaemia type I, II and III. Zdebska E; Gołaszewska E; Fabijańska-Mitek J; Schachter H; Shalev H; Tamary H; Sandström H; Wahlin A; Kościelak J Br J Haematol; 2001 Sep; 114(4):907-13. PubMed ID: 11564084 [TBL] [Abstract][Full Text] [Related]
20. Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings. Sharma P; Das R; Bansal D; Trehan A Hematology; 2015 Mar; 20(2):104-7. PubMed ID: 24801240 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]