397 results on '"Hennermann, Julia B."'
Search Results
2. Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
3. Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
4. 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
5. Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease
6. Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study
7. Handlungsempfehlungen nach der Leitlinie Klassifikation und Diagnostik der Mikrozephalie
8. Die α-Mannosidose: eine seltene, aber unterdiagnostizierte Erkrankung?
9. Angeborene Stoffwechselerkrankungen
10. Biventricular strain assessment indicates progressive impairment of myocardial contractility in phenotypically negative patients with Fabry’s disease
11. mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model
12. Retinal thinning in phenylketonuria and Gaucher disease type 3
13. Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature
14. Lysosomale Speicherkrankheiten – Morbus Fabry und Morbus Gaucher.
15. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
16. Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
17. Sulfite oxidase deficiency causes persulfidation loss and H2S release
18. Sphingolipidosen
19. Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients : A Multicenter, Cross-Sectional Study
20. Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
21. Angeborene Stoffwechselerkrankungen
22. Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis
23. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
24. Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
25. Case series on patients with delayed diagnosis of mild/moderate alpha-mannosidosis
26. Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
27. The Clinical and Molecular Spectrum of GM1 Gangliosidosis
28. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
29. Clinical outcomes and survival of individuals with methylmalonic acidemia, propionic acidemia, classic homocystinuria, and remethylation disorders identified through newborn screening
30. Sphingolipidosen
31. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
32. Nonketotic Hyperglycinemia (Glycine Encephalopathy) and Lipoate Deficiency Disorders
33. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
34. Saccadic reaction time and ocular findings in phenylketonuria
35. A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
36. Sphingolipidosen
37. Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
38. Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study
39. Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis:A phase 2, open label, multicenter study
40. A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades
41. The cardiovascular phenotype of adult patients with phenylketonuria
42. Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
43. Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
44. Two years of venglustat combined with imiglucerase shows continued positive effects on neurological features and brain connectivity in adults with Gaucher disease type 3
45. Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE registry
46. Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE registry
47. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
48. Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease
49. Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial
50. Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice
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