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Medientyp
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Erscheinungsjahr
Autor/in
- Kohlschütter, Alfried
- Schulz, Angela 18
- Bley, Annette 7
- Lukacs, Zoltan 6
- Nickel, Miriam 6
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66 Einträge gefunden
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Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
2009 - Forschungsinformationssystem des UKE -
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Metachromatic leukodystrophy: a scoring system for brain MR imaging observations
2009 - Forschungsinformationssystem des UKE -
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Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
- Pohl, Sandra
- Mitchison, Hannah M
- Kohlschütter, Alfried
- van Diggelen, Otto
- Braulke, Thomas
- Storch, Stephan
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A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.
2006 - Forschungsinformationssystem des UKE -
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Diagnosis of the neuronal ceroid lipofuscinoses: an update.
2006 - Forschungsinformationssystem des UKE -
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
- Hübner, Christian A
- Orth, Ulrike
- Senning, Arne
- Steglich, Cordula
- Kohlschütter, Alfried
- Korinthenberg, Rudolf
- Gal, Andreas
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The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
2005 - Forschungsinformationssystem des UKE -
[Is a reformation of the medical training worthwhile? The quality of the Hamburg curriculum under the old and the new board certification law]
- van den Bussche, Hendrik
- Anders, Sven
- Ehrhardt, Maren
- Göttsche, Thomas
- Hüneke, Bernd
- Kohlschütter, Alfried
- Kothe, Ralph
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Cumulative incidence rates of the mucopolysaccharidoses in Germany.
2005 - Forschungsinformationssystem des UKE -
Simultaneous determination of HIV antibodies, hepatitis C antibodies, and hepatitis B antigens in dried blood spots--a feasibility study using a multi-analyte immunoassay.
2005 - Forschungsinformationssystem des UKE -
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
2005 - Forschungsinformationssystem des UKE