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Advanced Search Results For "Wibbeler, Eva"

1 - 10 of 27 results for
 "Wibbeler, Eva"
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Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

Publication Type:Academic Journal

Source(s):Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

Abstract:Abstract Background Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality of life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative conditions due to cognitive...

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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study

Publication Type:Academic Journal

Source(s):Frontiers in Human Neuroscience, Vol 14 (2020)

Abstract:Introduction: Congenital myasthenic syndromes (CMS) refer to a heterogenic group of neuromuscular transmission disorders. CMS-subtypes are diverse regarding exercise intolerance and muscular weakness, varying from mild symptoms to life-limiting forms w...

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The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.

Publication Type:Academic Journal

Source(s):European Journal of Paediatric Neurology; May2022, Vol. 38, p62-65, 4p

Abstract:Copyright of European Journal of Paediatric Neurology is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may ...

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Development of the "Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients.

Publication Type:Academic Journal

Source(s):Journal of Child Neurology; Jul2021, Vol. 36 Issue 8, p635-641, 7p

Abstract:Copyright of Journal of Child Neurology is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print...

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Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2).

Publication Type:Academic Journal

Source(s):Orphanet Journal of Rare Diseases; 5/12/2021, Vol. 16 Issue 1, p1-13, 13p

Abstract:Copyright of Orphanet Journal of Rare Diseases is the property of BioMed Central and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print,...

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Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

Publication Type:Academic Journal

Source(s):Journal of Child Neurology; May2021, Vol. 36 Issue 6, p468-474, 7p

Abstract:Copyright of Journal of Child Neurology is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print...

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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study.

Publication Type:Academic Journal

Source(s):Frontiers in Human Neuroscience; 12/7/2020, Vol. 14, pN.PAG-N.PAG, 13p

Abstract:Copyright of Frontiers in Human Neuroscience is the property of Frontiers Media S.A. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may pr...

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Experiences with Cannabidiol in Patients with NCL Disease.

Publication Type:Academic Journal

Source(s):Neuropediatrics; 2019 Supplement2, Vol. 50, pS1-S55, 55p

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Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients.

Publication Type:Academic Journal

Source(s):Human Mutation; Oct2012, Vol. 33 Issue 10, p1474-1484, 11p

Abstract:Copyright of Human Mutation is the property of John Wiley & Sons, Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download,...

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