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Kohlschütter, Alfried
102
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Online (101)
Print (1)
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Books (1)
Articles (Online) (86)
OpenAccess-fulltext (14)
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german (4)
english (86)
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1
Genetic testing of leukodystrophies unraveling extensive he..:
Mahdieh, Nejat
;
Soveizi, Mahdieh
;
Tavasoli, Ali Reza
...
Scientific Reports. 11 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
2
The natural history of Canavan disease: 23 new cases and co..:
Bley, Annette
;
Denecke, Jonas
;
Kohlschütter, Alfried
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
3
Ethical Issues in Care and Treatment of Neuronal Ceroid Lip..:
Kohlschütter, Alfried
Frontiers in Neurology. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
4
Enzymatic diagnosis of neuronal lipofuscinoses in dried blo..:
Maeser, Stefan
;
Petre, Brindusa‐Alina
;
Ion, Laura
...
Journal of Mass Spectrometry. 56 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1002/..
?
5
Ophthalmologische Manifestationen bei neuronalen Ceroid-Lip..:
Atiskova, Yevgeniya
;
Kohlschütter, Alfried
;
Spitzer, Martin Stephan
.
Der Ophthalmologe. 118 (2020) 2 - p. 113-118 , 2020
Link:
https://doi.org/10.1007/..
?
6
Frühzeitige Diagnose einer seltenen Krankheit bei Kindern d..:
Kohlschütter, Alfried
;
van den Bussche, Hendrik
Zeitschrift für Evidenz, Fortbildung und Qualität im Gesundheitswesen. 141-142 (2019) - p. 18-23 , 2019
Link:
https://doi.org/10.1016/..
?
7
Twelve-year experience with a rapid and simple fluorometric..:
Lukacs, Zoltan
;
Nickel, Miriam
;
Murko, Simona
...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S96 , 2019
Link:
https://doi.org/10.1016/..
?
8
Current and Emerging Treatment Strategies for Neuronal Cero..:
Kohlschütter, Alfried
;
Schulz, Angela
;
Bartsch, Udo
.
CNS Drugs. 33 (2019) 4 - p. 315-325 , 2019
Link:
https://doi.org/10.1007/..
?
9
Validity of a rapid and simple fluorometric tripeptidyl pep..:
Lukacs, Zoltan
;
Nickel, Miriam
;
Murko, Simona
...
Clinica Chimica Acta. 492 (2019) - p. 69-71 , 2019
Link:
https://doi.org/10.1016/..
?
10
Autophagic vacuolar myopathy is a common feature of CLN3 di..:
Radke, Josefine
;
Koll, Randi
;
Gill, Esther
...
Annals of Clinical and Translational Neurology. 5 (2018) 11 - p. 1385-1393 , 2018
Link:
https://doi.org/10.1002/..
?
11
Die CLN3-Krankheit
Quantifizierte Beschreibung des klinischen Verlaufs bei mol...
Moll-Khosrawi, Parisa
, 2017
Link:
http://nbn-resolving.de/..
?
12
A recurrent de novo mutation in TMEM106B causes hypomyelina..:
Simons, Cas
;
Dyment, David
;
Bent, Stephen J
...
Brain. 140 (2017) 12 - p. 3105-3111 , 2017
Link:
https://doi.org/10.1093/..
?
13
Metachromatic Leukodystrophy: An Assessment of Disease Burd..:
Eichler, Florian S.
;
Cox, Timothy M.
;
Crombez, Eric
..
Journal of Child Neurology. 31 (2016) 13 - p. 1457-1463 , 2016
Link:
https://doi.org/10.1177/..
?
14
Early-onset leukoencephalopathy due to a homozygous missens..:
Köhler, Cornelia
;
Heyer, Christoph
;
Hoffjan, Sabine
...
Molecular and Cellular Probes. 29 (2015) 5 - p. 319-322 , 2015
Link:
https://doi.org/10.1016/..
?
15
Reprint of "Ethical issues with artificial nutrition of chi..:
Kohlschütter, Alfried
;
Riga, Carolina
;
Crespo, Dolores
...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1852 (2015) 10 - p. 2312-2315 , 2015
Link:
https://doi.org/10.1016/..
1-15