Cumulative incidence rates of the mucopolysaccharidoses in Germany
Baehner, F., Schmiedeskamp, C., Krummenauer, F., Miebach, E., Bajbouj, M., Whybra, C., Kohlschütter, A., Kampmann, C., Beck, M.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Novel morphological macular findings in juvenile CLN3 disease
Dulz, S, Wagenfeld, L, Nickel, M, Richard, G, Schwartz, R, Bartsch, U, Kohlschütter, A, Schulz, A
Published in British journal of ophthalmology (01.06.2016)
Published in British journal of ophthalmology (01.06.2016)
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Journal Article
Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression
Löbel, U, Sedlacik, J, Nickel, M, Lezius, S, Fiehler, J, Nestrasil, I, Kohlschütter, A, Schulz, A
Published in American journal of neuroradiology : AJNR (01.10.2016)
Published in American journal of neuroradiology : AJNR (01.10.2016)
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Journal Article
Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene
Köhler, C., Thiels, C., Hoffjan, S., Abicht, A., Heyer, C., Kohlschütter, A., Lücke, T.
Published in Neuropediatrics (16.04.2015)
Published in Neuropediatrics (16.04.2015)
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Conference Proceeding
Efficiency of long‐term tetrahydrobiopterin monotherapy in phenylketonuria
Steinfeld, R., Kohlschütter, A., Ullrich, K., Lukacs, Z.
Published in Journal of inherited metabolic disease (01.07.2004)
Published in Journal of inherited metabolic disease (01.07.2004)
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Journal Article
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)
Sarpong, A, Schottmann, G, Rüther, K, Stoltenburg, G, Kohlschütter, A, Hübner, C, Schuelke, M
Published in Clinical genetics (01.07.2009)
Published in Clinical genetics (01.07.2009)
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Journal Article
Antioxidant and prooxidant activity of alpha-tocopherol in human plasma and low density lipoprotein
Kontush, A, Finckh, B, Karten, B, Kohlschütter, A, Beisiegel, U
Published in Journal of lipid research (01.07.1996)
Published in Journal of lipid research (01.07.1996)
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Journal Article
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children
Henneke, M, Preuss, N, Engelbrecht, V, Aksu, F, Bertini, E, Bibat, G, Brockmann, K, Hübner, C, Mayer, M, Mejaski-Bosnjak, V, Naidu, S, Neumaier-Probst, E, Rodriguez, D, Weisz, W, Kohlschütter, A, Gärtner, J
Published in Neurology (26.04.2005)
Published in Neurology (26.04.2005)
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Journal Article
“Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia
Zittel, S., Nickel, M., Wolf, N. I., Uyanik, G., Gläser, D., Ganos, C., Gerloff, C., Münchau, A., Kohlschütter, A.
Published in Journal of neurology (01.11.2012)
Published in Journal of neurology (01.11.2012)
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Journal Article
Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency
Oechsner, M, Steen, C, Stürenburg, H J, Kohlschütter, A
Published in Journal of neurology, neurosurgery and psychiatry (01.05.1998)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.1998)
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Journal Article
Conference Proceeding
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin
Siintola, E, Topcu, M, Kohlschütter, A, Salonen, T, Joensuu, T, Anttonen, A-K, Lehesjoki, A-E
Published in Clinical genetics (01.08.2005)
Published in Clinical genetics (01.08.2005)
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Journal Article
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27
Neubauer, B A, Stefanova, I, Hübner, C A, Neumaier-Probst, E, Bohl, J, Oppermann, H C, Stö, H, Hahn, A, Stephani, U, Kohlschütter, A, Gal, A
Published in Neurology (22.08.2006)
Published in Neurology (22.08.2006)
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Journal Article
Impaired plasma antioxidative defense and increased nontransferrin-bound iron during high-dose chemotherapy and radiochemotherapy preceding bone marrow transplantation
Dürken, Matthias, Herrnring, Christina, Finckh, Barbara, Nagel, Sandra, Nielsen, Peter, Fischer, Roland, Berger, Howard M., Moison, Ralf M.W., Pichlmeier, Uwe, Kohlschütter, Brigitte, Zander, Axel R., Kohlschütter, Alfried
Published in Free radical biology & medicine (15.03.2000)
Published in Free radical biology & medicine (15.03.2000)
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Journal Article