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1Academic Journal
المؤلفون: Shin, Y., Podskarbi, T.
المصدر: Clinica Chimica Acta ; volume 530, page S217 ; ISSN 0009-8981
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2Academic Journal
المؤلفون: Tegtmeyer, LC, Rust, S, van Scherpenzeel, M, Ng, BG, Losfeld, ME, Timal, S, Raymond, K, He, P, Ichikawa, M, Veltman, J, Huijben, K, Shin, YS, Sharma, V, Adamowicz, M, Lammens, M, Reunert, J, Witten, A, Schrapers, E, Matthijs, G, Jaeken, J, Rymen, D, Stojkovic, T, Laforet, P, Petit, F, Aumaitre, O, Czarnowska, E, Piraud, M, Podskarbi, T, Stanley, CA, Matalon, R, Burda, P, Seyyedi, S, Debus, V, Socha, P, Sykut-Cegielska, J, van Spronsen, F, de Meirleir, L, Vajro, P, DeClue, T, Ficicioglu, C, Wada, Y, Wevers, RA, Vanderschaeghe, Dieter, Callewaert, Nico, Fingerhut, R, van Schaftingen, E, Freeze, HH, Morava, E, Lefeber, DJ, Marquardt, T
المصدر: NEW ENGLAND JOURNAL OF MEDICINE ; ISSN: 0028-4793
مصطلحات موضوعية: Medicine and Health Sciences, MUSCLE GLYCOGENOSIS, DILATED CARDIOMYOPATHY, NUCLEOTIDE SUGARS, GLYCOSYLATION, IDENTIFICATION, CHILDREN, THERAPY, GLUCOSE, CONGENITAL DISORDERS, GLYCOGEN-STORAGE-DISEASE
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/4349577; http://hdl.handle.net/1854/LU-4349577; http://dx.doi.org/10.1056/NEJMoa1206605; https://biblio.ugent.be/publication/4349577/file/4349755
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3Academic Journal
المؤلفون: Gathof, B. S., Sommer, M., Podskarbi, T., Reichardt, J., Braun, A., Gresser, U., Shin, Y. S.
المصدر: Human Genetics ; volume 97, issue 5, page 699-699 ; ISSN 0340-6717 1432-1203
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4Academic Journal
المؤلفون: Schänzer, A., Faas, D., Rust, S., Podskarbi, T., van Kuilenburg, A., Scarpa, M., Kunze, A., Marquardt, T., Hahn, A.
المصدر: Klinische Pädiatrie ; volume 228, issue 05, page 277-279 ; ISSN 0300-8630 1439-3824
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5Conference
المؤلفون: Hobbiebrunken, Elke, Schulz-Schaeffer, Walter J., Podskarbi, T., Mueller-Reible, Clemens, Klinge, Lars, Goebel, Hans H., Wilichowski, E.
Relation: 19th International Congress of the World-Muscle-Society; Berlin, GERMANY; https://resolver.sub.uni-goettingen.de/purl?gro-2/32204; 000342870200305
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6
المؤلفون: Schänzer, A., Faas, D., Rust, S., Podskarbi, T., van Kuilenburg, A. B. P., Scarpa, M., Kunze, A., Marquardt, T., Hahn, A.
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases
المصدر: Klinische Padiatrie, 228(5), 277-279. Georg Thieme Verlag
URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::abdfa90c81ba9c5e74a4ae61dc6af272
https://pure.amc.nl/en/publications/distinctly-elevated-chitotriosidase-activity-in-a-child-with-congenital-andersen-disease-glycogen-storage-disease-type-iv-deutlich-erhoehte-chitotriosidase-aktivitat-bei-einem-kind-mit-kongenitalem-morbus-anderson-glykogenspeicherkrankung-typ-iv(81cc037c-c244-4e4a-affd-b0d892a26e18).html -
7Academic Journal
المؤلفون: Aulbert, W., Weigt-Usinger, K., Thiels, C., Kohler, C., Vorgerd, M., Schreiner, A., Hoffjan, S., Rothoeft, T., Wortmann, S.B., Heyer, C.M., Podskarbi, T., Lucke, T.
المصدر: Neuropediatrics, 45, 6, pp. 346-53
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8Academic Journal
المؤلفون: Hainmann, Ina, Woltering, Tanja, Greiner, Peter, Nakamura, Lea, Podskarbi, T., Oldenburg, Johannes, Zieger, Barbara
المصدر: Klinische Pädiatrie. - 225, 03 (2013) , 174-175, ISSN: 0300-8630
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9Book
المؤلفون: Podskarbi, T.
المصدر: Screening auf angeborene endokrine und metabole Störungen ; page 241-249 ; ISBN 9783709172605 9783709162521
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10Book
المؤلفون: Podskarbi, T.
المصدر: Screening auf angeborene endokrine und metabole Störungen ; page 216-217 ; ISBN 9783709172605 9783709162521
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11Academic Journal
المؤلفون: Bald, M, Holder, M, Timmermann, K, Helmchen, U, Podskarbi, T, Shin, YS, Leichter, HE
المصدر: Klinische Pädiatrie ; volume 223, issue S 01 ; ISSN 0300-8630 1439-3824
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12Academic Journal
المؤلفون: Möhrenschlager, M, Pontz, BF, Lanzl, I, Podskarbi, T, Henkel, V, Ring, J
المساهمون: Klinik und Poliklinik für Augenheilkunde, Klinik und Poliklinik für Dermatologie und Allergologie
مصطلحات موضوعية: info:eu-repo/classification/ddc
Relation: https://mediatum.ub.tum.de/674664
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13Academic Journal
المؤلفون: Endo, Y., Horinishi, A., Vorgerd, Matthias, Aoyama, Y., Ebara, T., Murase, T., Odawara, M., Podskarbi, T., Shin, Y. S., Okubo, M.
المصدر: Journal of human genetics
مصطلحات موضوعية: ddc:610, AGL, CHINESE, DEBRANCHING ENZYME GENE, deletion, EXON, EXON 3, glycogen debranching enzyme, glycogen storage disease, HAPLOTYPE, haplotype analysis, IDENTIFICATION, insertion, IRAN, LIVER, NONSENSE MUTATION, REGION, SPLICE-SITE MUTATION, splicing mutation, type III
Time: 3
وصف الملف: 958–963
Relation: urn:issn:1434-5161
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14Academic Journal
المؤلفون: Anneser, J. M.H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G.H.
المصدر: Neurology ; volume 64, issue 2, page 368-370 ; ISSN 0028-3878 1526-632X
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15Academic Journal
المؤلفون: Sindern, E., Ziemssen, F., Ziemssen, T., Podskarbi, T., Shin, Y., Brasch, Frank, Müller, Klaus-Michael, Schröder, J. M., Malin, Jean-Pierre, Vorgerd, Matthias
المصدر: Neurology
مصطلحات موضوعية: ddc:610, DEFICIENCY, GENE, GLYCOGEN-BRANCHING ENZYME, Heart Failure, Congestive, MUTATIONS, STORAGE-DISEASE
وصف الملف: 263–265
Relation: urn:issn:0028-3878
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16Academic Journal
المؤلفون: Kono, JO, Podskarbi, T, Shin, Y, Lanzl, I
المساهمون: Klinik und Poliklinik für Augenheilkunde
مصطلحات موضوعية: info:eu-repo/classification/ddc
Relation: https://mediatum.ub.tum.de/1329400
الاتاحة: https://mediatum.ub.tum.de/1329400
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17Electronic Resource
المؤلفون: Tegtmeyer, L.C., Rust, S., Scherpenzeel, M. van, Ng, B.G., Losfeld, M.E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J.A., Huijben, K., Shin, Y.S., Sharma, V., Adamowicz, M., Lammens, M., Reunert, J., Witten, A., Schrapers, E., Matthijs, G., Jaeken, J., Rymen, D., Stojkovic, T., Laforet, P., Petit, F., Aumaitre, O., Czarnowska, E., Piraud, M., Podskarbi, T., Stanley, C.A., Matalon, R., Burda, P., Seyyedi, S., Debus, V., Socha, P., Sykut-Cegielska, J., Spronsen, F. van, Meirleir, L. de, Vajro, P., DeClue, T., Ficicioglu, C., Wada, Y., Wevers, R.A., Vanderschaeghe, D., Callewaert, N., Fingerhut, R., Schaftingen, E. van, Freeze, H.H., Morava, E., Lefeber, D.J., Marquardt, T.
المصدر: The New England Journal of Medicine; 533; 542; 0028-4793; 6; 370; ~The New England Journal of Medicine~533~542~~~0028-4793~6~370~~
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18Academic Journal
المؤلفون: Sindern, E., Postler, E., Shin, Y. S., Podskarbi, T., Müller, K. M., Schröder, J. Michael, Malin, J. P., Vorgerd, M.
المصدر: Aktuelle Neurologie 28, 109-191 (2001).
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/issn/0302-4350; info:eu-repo/semantics/altIdentifier/issn/1438-9428; info:eu-repo/semantics/altIdentifier/issn/1431-4886; https://publications.rwth-aachen.de/record/150326; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-029010%22
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19Academic Journal
المؤلفون: Crone, J., Huemer, M., Janecke, A. R., St�cker-Ipsiroglu, S., M�slinger, D., Huber, W. D., Podskarbi, T.
المصدر: Monatsschrift Kinderheilkunde ; volume 149, issue 12, page 1360-1365 ; ISSN 0026-9298 1433-0474
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20Academic Journal
المؤلفون: Shin, Y. S., Korenke, Christoph, Huppke, Peter, Knerr, Ina, Podskarbi, T.
Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/48154; 000087985300022
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