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21. Gangliosidosen

Author

Harzer, K., Benz, H. U., Schwiegk, H., editor, Assmann, G., editor, Augustin, J., editor, Baraona, E., editor, Benz, H. U., editor, Brech, W., editor, Brown, W. V., editor, Desnick, R. J., editor, Fallat, W. R., editor, Ford, S., editor, Fredrickson, D., editor, Glueck, Ch. J., editor, Greten, H., editor, Harzer, K., editor, Herbert, P., editor, Kostner, G. M., editor, Krivit, W., editor, Levy, R. I., editor, Lieber, C. S., editor, Liersch, M., editor, Middelhoff, G., editor, Mills, G. L., editor, Myant, N. B., editor, O’Dea, R. F., editor, Papenberg, J., editor, Pilz, H., editor, Rauen, H. M., editor, Sailer, S., editor, Schettler, G., editor, Schlierf, G., editor, Schriewer, H., editor, Seidel, D., editor, Slack, J., editor, Stange, E., editor, Stein, O., editor, Stein, Y., editor, Steinberg, D., editor, Weizel, A., editor, and Wieland, H., editor

Published
1976
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22. Sphingomyelinosen (Niemann-Picksche Erkrankung)

Author

Harzer, K., Benz, H. U., Schwiegk, H., editor, Assmann, G., editor, Augustin, J., editor, Baraona, E., editor, Benz, H. U., editor, Brech, W., editor, Brown, W. V., editor, Desnick, R. J., editor, Fallat, W. R., editor, Ford, S., editor, Fredrickson, D., editor, Glueck, Ch. J., editor, Greten, H., editor, Harzer, K., editor, Herbert, P., editor, Kostner, G. M., editor, Krivit, W., editor, Levy, R. I., editor, Lieber, C. S., editor, Liersch, M., editor, Middelhoff, G., editor, Mills, G. L., editor, Myant, N. B., editor, O’Dea, R. F., editor, Papenberg, J., editor, Pilz, H., editor, Rauen, H. M., editor, Sailer, S., editor, Schettler, G., editor, Schlierf, G., editor, Schriewer, H., editor, Seidel, D., editor, Slack, J., editor, Stange, E., editor, Stein, O., editor, Stein, Y., editor, Steinberg, D., editor, Weizel, A., editor, and Wieland, H., editor

Published
1976
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24. Sonographisch echodichte Milztumoren: Knotige Manifestation eines Morbus Niemann-Pick Typ C

Author

Rühl U, Harzer K, Fröhlich E, and Heller T

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Ultrasound, Splenectomy, nutritional and metabolic diseases, Echogenicity, Spleen, Disease, medicine.disease, medicine.anatomical_structure, hemic and lymphatic diseases, Angiography, medicine, Radiology, Nuclear Medicine and imaging, Radiology, business, Niemann–Pick disease, Splenic lymph nodes
Abstract

A female patient is described with highly echogenic splenic nodes found in routine diagnosis. After CT and angiography a splenectomy was carried out. The histological finding of sea blue histiocytes and the extended family history suggested a subtype of Niemann-Pick disease. Biochemical lipid analysis of the spleen confirmed Type-C Niemann-Pick disease. Niemann-Pick disease and its subtypes are discussed briefly.

Published
2008
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35. Buchbesprechungen

Author

Belitz, H. -D., Klostermeyer, H., Milczewski, K. Er. v., Kettl-Grömminger, M., Ochlenschläger, J., Schütz, M., Scherz, H., El Bayâ, W., Endres, O., Maier, H. G., Hennig, W., Millies, K., Radler, F., Schmidtlein, H., Barchet, R., Harzer, K., Hey, H., and Schwerdtfeger, E.

Published
1980
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50. Clinical findings in Niemann-Pick disease type B

Author

Krägeloh-Mann I, Fausto Machicao, HU Häring, Harzer K, H Mayrhofer, and Karsten Müssig

Subjects
Adult, Male, Niemann-Pick Diseases, medicine.medical_specialty, Niemann-Pick disease type B, business.industry, DNA, medicine.disease, Central nervous system disease, Diagnosis, Differential, Endocrinology, Sphingomyelin Phosphodiesterase, Bone Marrow, Internal medicine, Immunology, Mutation, Internal Medicine, medicine, Humans, business, Niemann–Pick disease, Tomography, X-Ray Computed
Published
2006

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