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Medientyp
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Autor/in
- Kohlschütter, Alfried
- Schulz, Angela 18
- Bley, Annette 7
- Lukacs, Zoltan 6
- Nickel, Miriam 6
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Sprache
66 Einträge gefunden
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Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL):NCL as diseases of brain and retina-the role of ophthalmologists, Ophthalmologische Manifestationen bei neuronalen Ceroid-Lipofuszinosen (NCL):NCL als Erkrankungen von Retina und Gehirn – Rolle der Augenärzte
2021 - Forschungsinformationssystem des UKE -
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
- Bley, Annette
- Denecke, Jonas
- Kohlschütter, Alfried
- Schön, Gerhard
- Hischke, Sandra
- Guder, Philipp
- Bierhals, Tatjana
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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants
- Mahdieh, Nejat
- Soveizi, Mahdieh
- Tavasoli, Ali Reza
- Rabbani, Ali
- Ashrafi, Mahmoud Reza
- Kohlschütter, Alfried
- Rabbani, Bahareh
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Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry
- Maeser, Stefan
- Petre, Brindusa-Alina
- Ion, Laura
- Rawer, Stephan
- Kohlschütter, Alfried
- Santorelli, Filippo M
- Simonati, Alessandro
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First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy
2020 - Forschungsinformationssystem des UKE -
Frühzeitige Diagnose einer seltenen Krankheit bei Kindern durchbessere Kommunikation zwischen Eltern, niedergelassenen Ärztenund spezialisierten Zentren
2019 - Forschungsinformationssystem des UKE - frei zugänglich -
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses
2019 - Forschungsinformationssystem des UKE -
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An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease
- Wyrwich, K W
- Schulz, Angela
- Nickel, Miriam
- Slasor, Peter
- Ajayi, Temitayo
- Jacoby, David
- Kohlschütter, Alfried
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Autophagic vacuolar myopathy is a common feature in CLN3 disease
2018 - Forschungsinformationssystem des UKE -
Study of Intraventricular Cerliponase Alfa for CLN2 Disease
- Schulz, Angela
- Ajayi, Temitayo
- Specchio, Nicola
- de Los Reyes, Emily
- Gissen, Paul
- Ballon, Douglas
- Dyke, Jonathan P
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Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
- Groeschel, Samuel
- Kühl, Jörn-Sven
- Bley, Annette E
- Kehrer, Christiane
- Weschke, Bernhard
- Döring, Michaela
- Böhringer, Judith
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Metachromatic Leukodystrophy: An Assessment of Disease Burden
2016 - Forschungsinformationssystem des UKE -
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Ethische Fragen bei künstlicher Ernährung von Kindern mit degenerativen Gehirnkrankheiten, Ethical issues with artificial nutrition of children with degenerative brain diseases
- Kohlschütter, Alfried
- Riga, Carolina
- Crespo, Dolores
- Torres, José Manuel
- Penchaszadeh, Victor
- Schulz, Angela
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Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
- Köhler, Cornelia
- Heyer, Christoph
- Hoffjan, Sabine
- Stemmler, Susanne
- Lücke, Thomas
- Thiels, Charlotte
- Kohlschütter, Alfried
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Demenzerkrankungen bei Kindern und Jugendlichen
2015 - Forschungsinformationssystem des UKE -
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Unexplained Loss of Vision in a Child::Consider Bilateral Primary Optic Nerve Sheath Meningioma
- Nickel, Miriam
- Löbel, Ulrike
- Holst, Brigitte
- Kammler, Gertrud
- Matschke, Jakob
- Schulz, Angela
- Kohlschütter, Alfried