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Kohlschütter, Alfried
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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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

Die CLN3-Krankheit 

Quantifizierte Beschreibung des klinischen Verlaufs bei mol... 
Moll-Khosrawi, Parisa , 2017
Link: http://nbn-resolving.de/..
 
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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/..
 
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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/..
 
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14

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/..
 
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15

Ethical issues with artificial nutrition of children with d..:

Kohlschütter, Alfried ; Riga, Carolina ; Crespo, Dolores...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1852 (2015)  7 - p. 1253-1256 , 2015
Link: https://doi.org/10.1016/..
 
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