Center for Obstetrics and Pediatrics
Publications
- 2014
Successful second ITI with factor IX and combined immunosuppressive therapy. A patient with severe haemophilia B and recurrence of a factor IX inhibitor
Holstein, K., Schneppenheim, R., Schrum, J., Bokemeyer, C. & Langer, F., 01.01.2014, In: HAMOSTASEOLOGIE. 34 , 4A, p. 5-8Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase
Jank, J. M., Maier, E. M., Reiβ, D. D., Haslbeck, M., Kemter, K. F., Truger, M. S., Sommerhoff, C. P., Ferdinandusse, S., Wanders, R. J., Gersting, S. W. & Muntau, A. C., 01.01.2014, In: PLOS ONE. 9, 4, p. e93852Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Therapie hereditärer Thrombozytopathien. Interdisziplinäre S2K-Leitlinie der Ständigen Kommission Pädiatrie der Gesellschaft für Thrombose- und Hämostaseforschung e. V
Streif, W., Knöfler, R., Eberl, W., Andres, O., Bakchoul, T., Bergmann, F., Beutel, K., Dittmer, R., Gehrisch, S., Gottstein, S., Halimeh, S., Haselböck, J., Hassenpflug, W-A., Heine, S., Holzhauer, S., King, S., Kirchmaier, C. M., Krause, M., Kreuz, W., Lösche, W., Mahnel, R., Maurer, M., Nimtz-Talaska, A., Olivieri, M., Rott, H., Schambeck, C. M., Schedel, A., Schilling, F. H., Schmugge, M., Schneppenheim, R., Scholz, U., Scholz, T., Schulze, H., Siegemund, A., Strauß, G., Sykora, K-W., Wermes, C., Wiegering, V., Wieland, I., Zieger, B. & Zotz, R. B., 01.01.2014, In: HAMOSTASEOLOGIE. 34, 4, p. 269-75Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Treosulfan-based conditioning regimen for children and adolescents with hemophagocytic lymphohistiocytosis
Lehmberg, K., Albert, M. H., Beier, R., Beutel, K., Gruhn, B., Kröger, N-M., Meisel, R., Schulz, A., Stachel, D., Woessmann, W., Janka, G. & Müller, I., 01.01.2014, In: HAEMATOLOGICA. 99, 1, p. 180-4 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review
WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma
Zhukova, N., Ramaswamy, V., Remke, M., Martin, D. C., Castelo-Branco, P., Zhang, C. H., Fraser, M., Tse, K., Poon, R., Shih, D. J. H., Baskin, B., Ray, P. N., Bouffet, E., Dirks, P., von Bueren, A. O., Pfaff, E., Korshunov, A., Jones, D. T. W., Northcott, P. A., Kool, M., Pugh, T. J., Pomeroy, S. L., Cho, Y-J., Pietsch, T., Gessi, M., Rutkowski, S., Bognár, L., Cho, B-K., Eberhart, C. G., Conter, C. F., Fouladi, M., French, P. J., Grajkowska, W. A., Gupta, N., Hauser, P., Jabado, N., Vasiljevic, A., Jung, S., Kim, S-K., Klekner, A., Kumabe, T., Lach, B., Leonard, J. R., Liau, L. M., Massimi, L., Pollack, I. F., Ra, Y. S., Rubin, J. B., Van Meir, E. G., Wang, K-C., Weiss, W. A., Zitterbart, K., Bristow, R. G., Alman, B., Hawkins, C. E., Malkin, D., Clifford, S. C., Pfister, S. M., Taylor, M. D. & Tabori, U., 01.01.2014, In: ACTA NEUROPATHOL COM. 2, p. 174Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Akutes Skrotum bei Kindern
Boettcher, M. & Reinshagen, K., 2014, In: Päd Praxis. 85, 2, p. 100-107Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Alterations in the Ubiquitin Proteasome System in Persistent but Not Reversible Proteinuric Diseases
Beeken, M., Lindenmeyer, M. T., Blattner, S. M., Radón, V., Oh, J., Meyer, T. N., Hildebrand, D., Schlüter, H., Reinicke-Vogt, A., Knop, J-H., Vivekanandan-Giri, A., Münster, S., Sachs, M., Wiech, T., Pennathur, S., Cohen, C. D., Kretzler, M., Stahl, R. A. K. & Meyer-Schwesinger, C., 2014, In: J AM SOC NEPHROL. 25, 11, p. 2511-25Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ambient-und Biomonitoring nach Quecksilberintoxikation
Budnik, L. T., Hermann, K., Preisser, A. M., Nordholt, G., Harth, V. & Mühlhausen, C., 2014, Deutsche Gesellschaft für Arbeitsmedizin und Umweltmedizin e.V.: Wissenschaftliche Jahrestagung 2014 in Dresden 02.04.-04.04.2014 Dokumentation der 54. Jahrestagung der DGAUM. . 1 ed. ecomed Medizin, Verlagsgruppe Hüthig Jehle Rehm GmbH, Vol. 54. p. 76 1 p.Research output: SCORING: Contribution to book/anthology › Conference contribution - Article for conference › Research › peer-review
Angeborene Störungen des Kohlenhydratstoffwechsels und sonstige angeborene Stoffwechselstörungen
Muntau, A. C., 2014, Therapie der Krankheiten im Kindes- und Jugendalter. Reinhardt, D., Nicolai, T. & Zimmer, K-P. (eds.). 9 ed. Berlin Heidelberg: Springer, p. 117-132 16 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
Co-incident BK and Epstein-Barr virus replication in a 3-year-old immunocompetent boy
Breuer, C., Hinsch, A., Hiort, J., Oh, J., Hirsch, H. H. & Dalquen, P., 2014, In: CLIN NEPHROL. 82, 4, p. 278-282Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation
Sheikhzadeh, S., Sondermann, C., Rybczynski, M., Habermann, C. R., Brockstädt, L., Keyser, B., Kaemmerer, H., Mir, T., Staebler, A., Robinson, P. N., Kutsche, K., Berger, J., Blankenberg, S. & Kodolitsch, Y., 2014, In: CLIN GENET. 86, 3, p. 238-245Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome
de Almeida, H. L., Rossi, G., de Abreu, L. B., Bergamaschi, C., da Silva, A. B. & Kutsche, K., 2014, In: AN BRAS DERMATOL. 89, 1, p. 180-1 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?
Ganos, C., Biskup, S., Krüger, S., Meyer-Osores, A., Hodecker, S., Hagel, C., Schöls, L., Bhatia, K. P. & Münchau, A., 2014, In: PARKINSONISM RELAT D. 20, 3, p. 328-31 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)
Kohlschütter, A., Schulz, A. & Denecke, J., 2014, In: J Pediatr Epilepsy. 3, p. 199-206Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
Seifert, W., Meinecke, P., Krüger, G., Rossier, E., Heinritz, W., Wüsthof, A. & Horn, D., 2014, In: BMC MED GENET. 15, p. 127Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa
Linder, B., Hirmer, A., Gal, A., Rüther, K., Bolz, H. J., Winkler, C., Laggerbauer, B. & Fischer, U., 2014, In: PLOS ONE. 9, 11, p. e111754Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Importin-α7 is Required for Enhanced Influenza A Virus Replication in the Alveolar Epithelium and Severe Lung Damage in Mice
Resa-Infante, P., Thieme, R., Ernst, T., Arck, P. C., Ittrich, H., Reimer, R. & Gabriel, G., 2014, In: J VIROL. 88, 4, p. 8166-8179Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study
Leuders, S., Wolfgart, E., Ott, T., du Moulin, M., van Teeffelen-Heithoff, A., Vogelpohl, L., Och, U., Marquardt, T., Weglage, J., Feldmann, R. & Rutsch, F., 2014, In: JIMD reports. 13, p. 101-9 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neuroonkologie
Rutkowski, S. J., Hornung, D., Kordes, U., Kammler, G., Hagel, C., Löbel, U., Ebinger, M., Rössler, J., Resch, A. & Linhart, D., 2014, Neuropädiatrie - Evidenzbasierte Therapie. Korinthenberg, R., Panteliadis, C. P. & Hagel, C. (eds.). 2 ed. München: Elsevier, 27 p. 12Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
Right ventricular stroke volume variation: a tool to assess right ventricular volume responsiveness
Kubitz, J., Richter, H. P., Petersen, C., Goetz, A. & Reuter, D., 2014, In: MINERVA ANESTESIOL. 80, 9, p. 992-995Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sensitivierung für Zytostatika-vermittelte Apoptose-Induktion durch Smac mimetic LCL161 beim Neuroblastom
Najem, S., Hundsdoerfer, P., Reinshagen, K. & Eschenburg, G., 2014, 109. Jahrestagung der Deutschen Gesellschaft für Kinder- und Jugendmedizin e.V. (DGKJ); .Research output: SCORING: Contribution to book/anthology › Conference contribution - Poster › Research
Sexualfunktionen, Schwangerschaft und Geburt
Rieger, L., Kämmerer, U. & Singer, D., 2014, Physiologie. Pape, H-C., A. K. & S. S. (eds.). 7 ed. Stuttgart: Georg Thieme Verlag KG, p. 635-670 36 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
Therapie des hämolytisch-urämischen Syndroms
Lemke, J., Kemper, M. J. & Loos, S., 2014, In: Päd Praxis. 83, 1, p. 103-111Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Wärmehaushalt und Temperaturregulation
Gekle, M. & Singer, D., 2014, Physiologie. Pape, H-C., Kurtz, A. & Silbernagl, S. (eds.). 7 ed. Stuttgart: Georg Thieme Verlag KG, p. 566-584 19 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
- 2013
Abatacept in B7-1-positive proteinuric kidney disease
Yu, C-C., Fornoni, A., Weins, A., Hakroush, S., Maiguel, D., Sageshima, J., Chen, L., Ciancio, G., Faridi, M. H., Behr, D., Campbell, K. N., Chang, J-M., Chen, H-C., Oh, J., Faul, C., Arnaout, M. A., Fiorina, P., Gupta, V., Greka, A., Burke, G. W. & Mundel, P., 19.12.2013, In: NEW ENGL J MED. 369, 25, p. 2416-23 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
BOLD MRI in the brain of fetal sheep at 3T during experimental hypoxia
Schoennagel, B. P., Yamamura, J., Fischer, R., de Sousa, M. T., Weyhmiller, M., Birkelbach, M., Kooijman, H., Adam, G. & Wedegärtner, U., 18.12.2013, In: J MAGN RESON IMAGING.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A formula to calculate the standard liver volume in children and its application in pediatric liver transplantation
Herden, U., Wischhusen, F., Heinemann, A., Ganschow, R., Grabhorn, E., Vettorazzi, E., Nashan, B. & Fischer, L., 01.12.2013, In: TRANSPL INT. 26, 12, p. 1217-24 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system
Khundadze, M., Kollmann, K., Koch, N., Biskup, C., Nietzsche, S., Zimmer, G., Hennings, J. C., Huebner, A. K., Symmank, J., Jahic, A., Ilina, E. I., Karle, K., Schöls, L., Kessels, M., Braulke, T., Qualmann, B., Kurth, I., Beetz, C. & Hübner, C. A., 01.12.2013, In: PLOS GENET. 9, 12, p. e1003988 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aktuelle Ergebnisse notfallmedizinischer Forschung 2012/2013
Hinkelbein, J., Braunecker, S., Singer, D., Thiele, H. & Böttiger, B. W., 01.12.2013, In: Notfallmed up2date. 8, p. 317-335Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical and sonographic features predict testicular torsion in children: a prospective study
Boettcher, M., Krebs, T., Bergholz, R., Wenke, K., Aronson, D. & Reinshagen, K., 01.12.2013, In: J UROLOGY. 112, 8, p. 1201-6 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Concomitant bilateral adnexal entanglement in a 7-year-old girl with precocious puberty
Boettcher, M., Kanellos-Becker, I., Akkurt, I. & Reinshagen, K., 01.12.2013, In: INT J GYNECOL OBSTET. 123, 3, p. 248-9 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
Kollmann, K., Pestka, J-M., Kühn, S. C., Schöne, E., Schweizer, M., Karkmann, K., Otomo, T., Catala-Lehnen, P., Failla, A. V., Marshall, R. P., Krause, M., Santer, R., Amling, M., Braulke, T. & Schinke, T., 01.12.2013, In: EMBO MOL MED. 5, 12, p. 1871-86 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
Chilian, B., Abdollahpour, H., Bierhals, T., Haltrich, I., Fekete, G., Nagel, I., Rosenberger, G. & Kutsche, K., 01.12.2013, In: CLIN GENET. 84, 6, p. 560-5 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fatal neurological side-effects with necrosis of spinal cord following nelarabine treatment in a child with relapsed T-cell acute lymphoblastic leukemia
Hartz, B., Löbel, U., Hagel, C. & Escherich, G., 01.12.2013, In: AM J HEMATOL. 88, 12, p. 1096-7 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes
Cleary, M., Trefz, F., Muntau, A. C., Feillet, F., van Spronsen, F. J., Burlina, A., Bélanger-Quintana, A., Giżewska, M., Gasteyger, C., Bettiol, E., Blau, N. & MacDonald, A., 01.12.2013, In: MOL GENET METAB. 110, 4, p. 418-23 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B. & Beggs, A. H., 01.12.2013, In: EUR J MED GENET. 56, 12, p. 678-82 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nabelschnurknoten bei monochorialer Zwillingsschwangerschaft
Somville, T., Ortmeyer, G., Glosemeyer, P., Hecher, K. & Diemert, A., 01.12.2013, In: Z GEBURTSH NEONATOL. 217, 6, p. 225-6 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Peripheral blood biomarkers for the characterization of alloimmune reactivity after pediatric liver transplantation
Briem-Richter, A., Leuschner, A., Krieger, T., Grabhorn, E., Fischer, L., Nashan, B., Haag, F. & Ganschow, R., 01.12.2013, In: PEDIATR TRANSPLANT. 17, 8, p. 757-64 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia
Rensing-Ehl, A., Janda, A., Lorenz, M. R., Gladstone, B. P., Fuchs, I., Abinun, M., Albert, M., Butler, K., Cant, A., Cseh, A-M., Ebinger, M., Goldacker, S., Hambleton, S., Hebart, H., Houet, L., Kentouche, K., Kühnle, I., Lehmberg, K., Mejstrikova, E., Niemeyer, C., Minkov, M., Neth, O., Dückers, G., Owens, S., Rösler, J., Schilling, F. H., Schuster, V., Seidel, M. G., Smisek, P., Sukova, M., Svec, P., Wiesel, T., Gathmann, B., Schwarz, K., Vach, W., Ehl, S. & Speckmann, C., 01.12.2013, In: HAEMATOLOGICA. 98, 12, p. 1948-55 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma
Remke, M., Ramaswamy, V., Peacock, J., Shih, D. J. H., Koelsche, C., Northcott, P. A., Hill, N., Cavalli, F. M. G., Kool, M., Wang, X., Mack, S. C., Barszczyk, M., Morrissy, A. S., Wu, X., Agnihotri, S., Luu, B., Jones, D. T. W., Garzia, L., Dubuc, A. M., Zhukova, N., Vanner, R., Kros, J. M., French, P. J., Van Meir, E. G., Vibhakar, R., Zitterbart, K., Chan, J. A., Bognár, L., Klekner, A., Lach, B., Jung, S., Saad, A. G., Liau, L. M., Albrecht, S., Zollo, M., Cooper, M. K., Thompson, R. C., Delattre, O. O., Bourdeaut, F., Doz, F. F., Garami, M., Hauser, P., Carlotti, C. G., Van Meter, T. E., Massimi, L., Fults, D., Pomeroy, S. L., Kumabe, T., Ra, Y. S., Leonard, J. R., Elbabaa, S. K., Mora, J., Rubin, J. B., Cho, Y-J., McLendon, R. E., Bigner, D. D., Eberhart, C. G., Fouladi, M., Wechsler-Reya, R. J., Faria, C. C., Croul, S. E., Huang, A., Bouffet, E., Hawkins, C. E., Dirks, P. B., Weiss, W. A., Schüller, U., Pollack, I. F., Rutkowski, S., Meyronet, D., Jouvet, A., Fèvre-Montange, M., Jabado, N., Perek-Polnik, M., Grajkowska, W. A., Kim, S-K., Rutka, J. T., Malkin, D., Tabori, U., Pfister, S. M., Korshunov, A., von Deimling, A. & Taylor, M. D., 01.12.2013, In: ACTA NEUROPATHOL. 126, 6, p. 917-29 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Spiral ganglion neuron quantification in the guinea pig cochlea using Confocal Laser Scanning Microscopy compared to embedding methods
Wrzeszcz, A., Reuter, G., Nolte, I., Lenarz, T. & Scheper, V., 12.2013, In: HEARING RES. 306, p. 145-55 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CASK-Related Disorders
Moog, U., Uyanik, G. & Kutsche, K., 26.11.2013, In: GeneReviews®.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Syntaxin binding mechanism and disease-causing mutations in Munc18-2
Hackmann, Y., Graham, S. C., Ehl, S., Höning, S., Lehmberg, K., Aricò, M., Owen, D. J. & Griffiths, G. M., 19.11.2013, In: P NATL ACAD SCI USA. 110, 47, p. E4482-91Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
Leutermann, R., Sheikhzadeh, S., Brockstädt, L., Rybczynski, M., van Rahden, V., Kutsche, K., Kodolitsch, Y. & Rosenberger, G., 06.11.2013, In: EUR J HUM GENET. 22, p. 944-948Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
Kollmann, K., Uusi-Rauva, K., Scifo, E., Tyynelä, J., Jalanko, A. & Braulke, T., 01.11.2013, In: BBA-MOL BASIS DIS. 1832, 11, p. 1866-81 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation
Vieth, S., Ammann, S., Schwarz, K., Härtel, C., Schultz, C., Lehmberg, K. & Lauten, M., 01.11.2013, In: KLIN PADIATR. 225, 6, p. 343-6 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cognitive performance in pediatric liver transplant recipients
Kaller, T., Langguth, N., Petermann, F., Ganschow, R., Nashan, B. & Schulz, K-H., 01.11.2013, In: AM J TRANSPLANT. 13, 11, p. 2956-65 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Effect of prenatal steroid treatment on the developing immune system
Diepenbruck, I., Much, C. C., Krumbholz, A., Kolster, M., Thieme, R., Thieme, D., Diepenbruck, S., Solano, M. E., Arck, P. C. & Tolosa, E., 01.11.2013, In: J MOL MED. 91, 11, p. 1293-302 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Growing experience with mTOR inhibitors in pediatric solid organ transplantation
Ganschow, R., Pape, L., Sturm, E., Bauer, J., Melter, M., Gerner, P., Hoecker, B., Ahlenstiel, T., Kemper, M., Brinkert, F., Sachse, M. M. & Tönshoff, B., 01.11.2013, In: PEDIATR TRANSPLANT. 17, 7, p. 694-706 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies
Preisler, N., Lukacs, Z., Vinge, L., Madsen, K. L., Husu, E., Hansen, R. S., Duno, M., Andersen, H., Laub, M. & Vissing, J., 01.11.2013, In: MOL GENET METAB. 110, 3, p. 287-9 3 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review