HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test.
暂无分享,去创建一个
[1] B. Bonné-Tamir,et al. Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3. , 1998, American journal of human genetics.
[2] P. Gasparini,et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. , 1997, American journal of human genetics.
[3] J. Marth,et al. Alpha-Mannosidase-II Deficiency Results in Dyserythropoiesis and Unveils an Alternate Pathway in Oligosaccharide Biosynthesis , 1997, Cell.
[4] R. Erickson. Mouse models of human genetic disease: Which mouse is more like a man? , 1996, BioEssays : news and reviews in molecular, cellular and developmental biology.
[5] P. Marks,et al. Congenital dyserythropoietic anemias , 1996, American journal of hematology.
[6] M. Mattei,et al. Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[7] R. Laine,et al. Polylactosamines are not obligate receptors for invasion of Plasmodium falciparum malaria as shown in HEMPAS variant II-gal- erythrocytes. , 1994, Glycobiology.
[8] D. Melton,et al. Gene targeting in the mouse. , 1994, BioEssays : news and reviews in molecular, cellular and developmental biology.
[9] P. de Cock,et al. Carbohydrate-deficient glycoprotein syndrome type II , 1993, Journal of Inherited Metabolic Disease.
[10] A. Dell,et al. Incompletely processed N‐glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS) , 1992, British journal of haematology.
[11] A. Dell,et al. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[12] M. Fukuda. HEMPAS disease: genetic defect of glycosylation. , 1990, Glycobiology.
[13] A. Dell,et al. Isolation and characterization of poly-N-acetyllactosaminylceramides accumulated in the erythrocytes of congenital dyserythropoietic anemia type II patients. , 1986, Chemistry and physics of lipids.
[14] M. Anderson,et al. Parvovirus infection associated with aplastic crisis in a patient with HEMPAS. , 1986, Journal of clinical pathology.
[15] C. Lomas,et al. Transient anti‐D in an Rh‐positive patient with congenital dyserythropoietic anemia type II , 1984, Transfusion.
[16] U. Testa,et al. Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS) , 1984, British journal of haematology.
[17] M. Tanner,et al. Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia Type II (CDA II) , 1983, British journal of haematology.
[18] P. Scartezzini,et al. Decreased glycosylation of band 3 and band 4‐5 glycoproteins of erythrocyte membrane in congenital dyserythropoietic anaemia type II , 1982, British journal of haematology.
[19] T. Gabuzda,et al. Normal serum ferritin levels in a patient with HEMPAS syndrome and iron overload. , 1982, American journal of clinical pathology.
[20] J. Banga,et al. Red cell membrane protein anomalies in congenital dyserythropoietic anaemia, type II (HEMPAS) , 1982 .
[21] R. Lowenthal,et al. Erythrocyte membrane proteins in an unusual case of congenital dyserythropoietic anaemia type II (CDA II) , 1982, British journal of haematology.
[22] H. Heimpel,et al. Congenital Dyserythropoietic Anaemia, Types I and II: Aberrant Pattern of Erythrocyte Membrane Proteins in CDA II, as Revealed by Two‐dimensional Polyacrylamide Gel Electrophoresis , 1977, British journal of haematology.
[23] J. Gockerman,et al. Accumulation of glycolipids containing N-acetylglucosamine in erythrocyte stroma of patients with congenital dyserythropoietic anemia type II (HEMPAS). , 1975, Biochemical and biophysical research communications.
[24] R. Graham,et al. Erythrocyte lipids and vitamin E in type II congenital dyserythropoietic anemia. , 1974, The Journal of pediatrics.
[25] S. Lewis,et al. Hereditary Erythroblastic Multinuclearity Associated with a Positive Acidified‐Serum Test: a Type of Congenital Dyserythropoietic Anaemia , 1969, British journal of haematology.
[26] G. Holmgren,et al. Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. , 1995, Human molecular genetics.
[27] S. Perrotta,et al. Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child. , 1995, Acta haematologica.
[28] M. Fukuda. Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis. , 1993, Bailliere's clinical haematology.
[29] P. Jacobs,et al. Congenital dyserythropoietic anaemia (type II) presenting with haemosiderosis. , 1987, Acta haematologica.
[30] Y. Levo,et al. Severe hemochromatosis: the predominant clinical manifestation of congenital dyserythropoietic anemia type 2. , 1985, Acta haematologica.
[31] L. Luzzatto,et al. Congenital dyserythropoietic anaemia type II associated with a new type of G6PD deficiency (G6PD Gabrovizza). , 1984, Acta haematologica.