Alfried Kohlschutter
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Explore the profile of Alfried Kohlschutter including associated specialties, affiliations and a list of published articles.
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69
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1504
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Recent Articles
1.
Kohlschutter A
Front Neurol
. 2021 Jul;
12:692527.
PMID: 34248829
The management of Neuronal Ceroid Lipofuscinoses (NCL), a group of genetic neurodegenerative disorders mainly affecting brain and retinas, raises difficult questions for physicians and other professionals in research, pharmaceutical industry,...
2.
Bley A, Denecke J, Kohlschutter A, Schon G, Hischke S, Guder P, et al.
Orphanet J Rare Dis
. 2021 May;
16(1):227.
PMID: 34011350
Background: Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical...
3.
Mahdieh N, Soveizi M, Tavasoli A, Rabbani A, Ashrafi M, Kohlschutter A, et al.
Sci Rep
. 2021 Feb;
11(1):3231.
PMID: 33547378
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on...
4.
Atiskova Y, Kohlschutter A, Spitzer M, Dulz S
Ophthalmologe
. 2020 Dec;
118(2):113-118.
PMID: 33315139
Background: Neuronal ceroid lipofuscinoses are hereditary lysosomal storage diseases, which lead to a progressive neurodegeneration of the brain and retina. Visual loss can be the initial symptom but can also...
5.
Maeser S, Petre B, Ion L, Rawer S, Kohlschutter A, Santorelli F, et al.
J Mass Spectrom
. 2020 Dec;
56(1):e4675.
PMID: 33314470
Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative diseases predominantly in childhood that are characterized by psychomotor deterioration, epilepsy, and early death of patients. The NCLs analyzed in the...
6.
Kohlschutter A, Finckh B, Nickel M, Bley A, Hubner C
Neurodegener Dis
. 2020 Jul;
20(1):35-38.
PMID: 32623435
Introduction: Familial isolated deficiency of vitamin E (VED or AVED; MIM #277460) is a progressive neurodegenerative disorder resembling Friedreich ataxia. It is caused by the deficiency of α-tocopherol transfer protein...
7.
Kohlschutter A, Bussche H
Z Evid Fortbild Qual Gesundhwes
. 2019 Mar;
141-142:18-23.
PMID: 30878243
The correct and early diagnosis of a rare disease in children is of particular importance in regard to the frequently fateful consequences for young families. Even well-known rare diseases are...
8.
Kohlschutter A, Schulz A, Bartsch U, Storch S
CNS Drugs
. 2019 Mar;
33(4):315-325.
PMID: 30877620
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal storage disorders caused by mutations in at least 13 different genes and primarily affect the brain and the retina of...
9.
Lukacs Z, Nickel M, Murko S, Nieves Cobos P, Schulz A, Santer R, et al.
Clin Chim Acta
. 2019 Feb;
492:69-71.
PMID: 30771299
Purpose: CLN2 disease is a genetic disorder caused by dysfunction of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1) that belongs to the neuronal ceroid lipofuscinoses (NCL) and leads to epilepsy,...
10.
Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschutter A, et al.
Ann Clin Transl Neurol
. 2018 Nov;
5(11):1385-1393.
PMID: 30480032
Objective: The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3....