423 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. Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study
6. Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease
7. Handlungsempfehlungen nach der Leitlinie Klassifikation und Diagnostik der Mikrozephalie
8. Angeborene Stoffwechselerkrankungen
9. Die α-Mannosidose: eine seltene, aber unterdiagnostizierte Erkrankung?
10. mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model
11. Retinal thinning in phenylketonuria and Gaucher disease type 3
12. The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.
13. Lysosomale Speicherkrankheiten – Morbus Fabry und Morbus Gaucher.
14. Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature
15. Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
16. Sphingolipidosen
17. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
18. Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients : A Multicenter, Cross-Sectional Study
19. Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
20. Angeborene Stoffwechselerkrankungen
21. Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
22. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
23. Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis
24. Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
25. Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
26. Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity
27. A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition
28. Sulfite oxidase deficiency causes persulfidation loss and H2S release
29. Case series on patients with delayed diagnosis of mild/moderate alpha-mannosidosis
30. Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
31. The Clinical and Molecular Spectrum of GM1 Gangliosidosis
32. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
33. Sphingolipidosen
34. Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis
35. Clinical outcomes and survival of individuals with methylmalonic acidemia, propionic acidemia, classic homocystinuria, and remethylation disorders identified through newborn screening
36. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
37. Nonketotic Hyperglycinemia (Glycine Encephalopathy) and Lipoate Deficiency Disorders
38. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
39. Saccadic reaction time and ocular findings in phenylketonuria
40. A Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
41. Sphingolipidosen
42. Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
43. 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
44. A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades
45. The cardiovascular phenotype of adult patients with phenylketonuria
46. Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
47. Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
48. 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
49. Two years of venglustat combined with imiglucerase shows continued positive effects on neurological features and brain connectivity in adults with Gaucher disease type 3
50. Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE registry
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