572 results on '"Lachmann, Robin"'
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2. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
3. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
4. Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults
5. Population screening requires robust evidence—genomics is no exception
6. Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study
7. Hyperphenylalaninaemia Hyperphenylalaninaemia
8. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
9. Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
10. Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study
11. International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach
12. Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease
13. Hyperphenylalaninaemia
14. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
15. Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products
16. Impact of homozygous p.Arg610del genotype on disease burden and treatment response in adults with acid sphingomyelinase deficiency in the ASCEND trial of olipudase alfa
17. Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial
18. PKU in Adults: What do we know?
19. Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials
20. Disorders of Carbohydrate Metabolism
21. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
22. Population screening requires robust evidence—genomics is no exception
23. Reversal of interstitial lung disease after olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency
24. Glycogen storage diseases
25. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
26. Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives
27. Hyperphenylalaninaemia
28. Registries for orphan drugs: generating evidence or marketing tools?
29. Baseline demographics of the UK Early Access to Medicines Scheme registry for cipaglucosidase alfa plus miglustat in enzyme replacement therapy-experienced adults with late-onset Pompe disease
30. Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy
31. Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
32. Mucolipidosis type III, a series of adult patients
33. Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
34. Isolated aortic root dilation in homocystinuria
35. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
36. The use of herpes simplex virus type 1 for transgene expression within the nervous system
37. Urinary excretion and metabolism of miglustat and valproate in patients with Niemann–Pick type C1 disease: One- and two-dimensional solution-state 1H NMR studies
38. Challenges of whole genome sequencing in population newborn screening.
39. Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up
40. Aminoacidopathies, urea cycle disorders, and organic acidurias
41. Endocrine and Metabolic Emergencies in Inherited Metabolic Diseases
42. Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
43. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
44. Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment
45. P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
46. Author response: Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study
47. Additional file 1 of Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults
48. Expanding the phenotype in argininosuccinic aciduria: need for new therapies
49. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage
50. Hyperphenylalaninaemia
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