49 results on '"Borgwardt, Line"'
Search Results
2. Whole genome sequencing in clinical practice
3. Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II
4. Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis
5. Long-term efficacy of velmanase alfa treatment in patients with alpha-mannosidosis: Pooled data from two extension studies (up to 12 years of therapy)
6. Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report
7. Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
8. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
9. Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE registry
10. Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE registry
11. A novel DOCK2 variant in siblings with severe combined immunodeficiency
12. O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry*
13. P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry
14. Relationship betweenMAN2B1genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis
15. Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling
16. Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic
17. Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis.
18. Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2
19. Evaluation of 2 patients with alpha-mannosidosis and history of conductive hearing impairment participating in a placebo-controlled, phase 3 program receiving velmanase alfa (human recombinant alpha-mannosidase)
20. Effect of velmanase alfa (human recombinant alpha-mannosidase) enzyme-replacement therapy on quality of life and disease burden of patients with alpha-mannosidosis: Results from caregiver feedback
21. Anesthesia for patients with alpha-mannosidosis – a case series of 10 patients
22. Combining epigenetic therapy with venetoclax overcomes alemtuzumab resistance in T-cell prolymphocytic leukemia. A case report of a 26-year-old man with a prior history of T-cell acute lymphoblastic leukemia and GI-T lymphoma
23. Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis
24. Genotype–phenotype associations in PPGLs in 59 patients with variants in SDHX genes
25. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
26. Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
27. Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature
28. The SPARKLE registry: a multicenter, multinational, noninterventional, prospective cohort registry study in patients with alpha-mannosidosis
29. Estimating GFR in children with 99mTc-DTPA renography: a comparison with single-sample 51Cr-EDTA clearance
30. Elective caesarean section increases the risk of respiratory morbidity of the newborn
31. The SPARKLE study: Shedding light on alpha mannosidosis
32. The first study investigating safety and efficacy of velmanase alfa (human recombinant alpha mannosidase) in alpha-mannosidosis patients below six years of age
33. Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis
34. Gender, mutations and residual enzymatic activity: Investigation of predictive factors of alpha-mannosidosis phenotypic presentation and of response to velmanase alfa long term enzyme replacement therapy
35. Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial
36. Global treatment response analysis of velmanase alfa long term enzyme replacement therapy for alpha-mannosidosis shows treatment benefit across ages
37. Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis
38. Improvement in pulmonary function and serum immunoglobulin G in long-term enzyme replacement therapy with velmanase alfa(human recombinant alpha-mannosidase) in alpha-mannosidosis patients
39. Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) improves mobility in alpha-mannosidosis patients
40. Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) slows disease progression in adult patients suffering from alpha-mannosidosis
41. Improvement in fine and gross motor proficiency after long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha mannosidase) in alpha-mannosidosis patients
42. Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases
43. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
44. Enzyme Replacement Therapy for Patients with Alpha-Mannosidosis
45. Estimating GFR in children with99mTc-DTPA renography: a comparison with single-sample51Cr-EDTA clearance
46. Estimating GFR in children with 99mTc-DTPA renography: a comparison with single-sample 51Cr-EDTA clearance.
47. Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis.
48. Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.
49. [Autoimmune polyglandular syndrome in a 13-year old girl].
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