- Facharzt
- Facharzt für Kinder- und Jugendmedizin
Fachgebiete
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Kinder- und Jugendmedizin
Tätigkeitsschwerpunkte
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degenerative Gehirnerkrankungen
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NCL-Sprechstunde
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intraventrikuläre Enzymersatztherapie bei CLN2
Mitgliedschaften
Publikationen
Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease
Gkalapis N, Dulz S, Grohmann C, Nickel M, Schwering C, Wibbeler E, Spitzer M, Schulz A, Atiskova Y
EYE BRAIN. 2024;16:101-113.
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward S, Chakrapani A, Schwering C, Wibbeler E, Westermann L, Ballon D, Dyke J, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J
LANCET NEUROL. 2024;23(1):60-70.
Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)
Dulz S, Schwering C, Wildner J, Spartalis C, Schuettauf F, Bartsch U, Wibbeler E, Nickel M, Spitzer M, Atiskova Y, Schulz A
BRIT J OPHTHALMOL. 2023;107(10):1478-1483.
Visual perception and macular integrity in non-classical CLN2 disease
Atiskova Y, Wildner J, Wibbeler E, Nickel M, Spitzer M, Schwering C, Schulz A, Dulz S
GRAEF ARCH CLIN EXP. 2022;260(11):3693-3700.
Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV-Enzyme Replacement Therapy: A Case Report
Schwering C, Apostolidou S, Deindl P, Christner M, Knobloch J, Herrmann J, Kobbe R, Schulz A, Singer D, Ebenebe C
NEUROPEDIATRICS. 2022;53(5):381-384.
The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample
Wibbeler E, Nickel M, Schwering C, Schulz A, Mink J
EUR J PAEDIATR NEURO. 2022;38:62-65.
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)
Gissen P, Specchio N, Olaye A, Jain M, Butt T, Ghosh W, Ruban-Fell B, Griffiths A, Camp C, Sisic Z, Schwering C, Wibbeler E, Trivisano M, Lee L, Nickel M, Mortensen A, Schulz A
ORPHANET J RARE DIS. 2021;16(1):.
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
Schwering C, Kammler G, Wibbeler E, Christner M, Knobloch J, Nickel M, Denecke J, Baehr M, Schulz A
J CHILD NEUROL. 2021;36(8):635-641.
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series
Wibbeler E, Wang R, Reyes E, Specchio N, Gissen P, Guelbert N, Nickel M, Schwering C, Lehwald L, Trivisano M, Lee L, Amato G, Cohen-Pfeffer J, Shediac R, Leal-Pardinas F, Schulz A
J CHILD NEUROL. 2021;36(6):468-474.
An ophthalmic rating scale to assess ocular involvement in juvenile CLN3 disease
Dulz S, Atiskova Y, Wibbeler E, Wildner J, Wagenfeld L, Schwering C, Nickel M, Bartsch U, Spitzer M, Schulz A
AM J OPHTHALMOL. 2020;(220):64-71.
Study of Intraventricular Cerliponase Alfa for CLN2 Disease
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke J, Cahan H, Slasor P, Jacoby D, Kohlschütter A
NEW ENGL J MED. 2018;378(20):1898-1907.
Best practices for the use of intracerebroventricular drug delivery devices
Slavc I, Cohen-Pfeffer J, Gururangan S, Krauser J, Lim D, Maldaun M, Schwering C, Shaywitz A, Westphal M
MOL GENET METAB. 2018;124(3):184-188.
Letzte Aktualisierung aus dem FIS: 12.12.2024 - 23:36 Uhr