1,546 results on '"BEUTLER E"'
Search Results
2. Spectroscopy of Nanosphere-Substrate Coupling: The Role of Multipolar Surface Phonon Modes
3. Treatment of Multiple Sclerosis with Cladribine
4. Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia
5. Purification and Properties of Human Erythrocyte Pyrimidine 5 ′ -nucleotidase
6. Enzyme Replacement Therapy in Gaucher's Disease: Preliminary Clinical Trial of a New Enzyme Preparation
7. Existence of Only a Single Functional Pool of Adenosine Triphosphate in Human Erythrocytes
8. Comparison of Structure and Function of Human Erythrocyte and Human Muscle Actin
9. Heterogeneity in Type I Gaucher Disease Demonstrated by Restriction Mapping of the Gene
10. Characterization of Heteropolymeric Hexosaminidase A in human × mouse Hybrid Cells
11. Identification of the Second Common Jewish Gaucher Disease Mutation Makes Possible Population-Based Screening for the Heterozygous State
12. G6PD Variants in Three South American Ethnic Groups : Population Distribution and Description of Two New Mutations
13. The treatment of acute leukemia: past, present, and future
14. Coincidence of Gaucher's disease due to a 1226G/1448C mutation and of an immunoglobulin G lambda multiple myeloma with Bence-Jones proteinuria
15. Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant Phenotypes
16. GPI Mount Scopus — a variant of glucosephosphate isomerase deficiency
17. Overweight and obesity associated with a missense polymorphism in fatty acid amide hydrolase (FAAH)
18. Incorporation of Glucocerebrosidase into Gaucher's Disease Monocytes in vitro
19. Enzyme Replacement Therapy in Gaucher's Disease: A Rapid, High-Yield Method for Purification of Glucocerebrosidase
20. A Common Mutant EcoRI Restriction Endonuclease Site in the 5 ′ Flanking Portion of the Human α -globin Gene
21. A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote
22. The “ascorbate” effect on 2,3-DPG is known to be due to Oxalate
23. Penetrance of haemochromatosis
24. Cladribine in treatment of chronic progressive multiple sclerosis
25. A previously undescribed nonsense mutation of the HFE gene
26. Synergy between TLR2 and TLR4: A safety mechanism
27. Introduction to Janet D Rowley
28. Glucose-6-Phosphate Dehydrogenase Variants in Hawaii
29. The Molecular Biology of Gaucher Disease
30. Human Red Cell Protein Kinase in Normal Subjects and Patients with Hereditary Spherocytosis, Sickle Cell Disease, and Autoimmune Hemolytic Anemia
31. Tissue effects of iron deficiency
32. Gaucher disease, a paradigm for single gene defects
33. Two new Gaucher disease mutations
34. Abnormalities of Glycolysis (HMP Shunt)*
35. Clinical Penetrance of Hereditary Hemochromatosis (HH) is Extremely Low
36. Variants of galactose-1-phosphate uridyl transferase in the Greek populations
37. G-6-PD Jalisco and G-6-PD Morelia: Two new Mexican variants
38. Biochemistry of the erythrocyte
39. Iron enzymes in iorn deficiency
40. Gd (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil
41. The effect of 2,3-DPG on red cell enzymes
42. Abnormalities of Glycolysis (HMP Shunt)*
43. The Preservation of Red Cell ATP in Adenine Containing Citrate-Dextrose Preservative Mixtures*
44. Contamination of commercially available intermediates of the glycolytic pathway
45. Genetic variability of G-6-PD
46. Prediction of severity of Gaucher's disease by identification of mutations at DNA level
47. Structure and linkage relationships of the region containing the human L-type pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes
48. 1342C MUTATION IN GAUCHERS-DISEASE
49. Erroneous or Arrhenius—Potential Impact of Oven Temperature Variations on Laboratory Aging of Tires
50. The designation of mutations
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.