ORPHANET J RARE DIS - Orphanet Journal of Rare Diseases
Publications
- 2017
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., De Laet, C., Leuzzi, V., Rutsch, F., Sivri, H. S., Vijay, S., Bal, M. O., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Munafo, A., Mould, D. R., Moreau-Stucker, F. & Rogoff, D., 09.03.2017, In: ORPHANET J RARE DIS. 12, 1, p. 47Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Non-optic glioma in adults and children with neurofibromatosis 1
Sellmer, L., Farschtschi, S., Marangoni, M., Heran, M. K. S., Birch, P., Wenzel, R., Friedman, J. M. & Mautner, V-F., 15.02.2017, In: ORPHANET J RARE DIS. 12, 1, p. 34Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2016
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration
Busch, A., Hoffjan, S., Bergmann, F., Hartung, B., Jung, H., Hanel, D., Tzschach, A., Kadar, J., von Kodolitsch, Y., Germer, C-T., Trobisch, H., Strasser, E. & Wildenauer, R., 03.08.2016, In: ORPHANET J RARE DIS. 11, 1, p. 111Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
Schmidt, M., Breyer, S., Löbel, U., Yarar, S., Stücker, R., Ullrich, K., Müller, I. & Muschol, N., 10.07.2016, In: ORPHANET J RARE DIS. 11, 1, p. 93Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
Santer, R., du Moulin, M., Shahinyan, T., Vater, I., Maier, E., Muntau, A. C. & Steinmann, B., 2016, In: ORPHANET J RARE DIS. 11, p. 44Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Chien, Y-H., Abdenur, J. E., Baronio, F., Bannick, A. A., Corrales, F., Couce, M., Donner, M. G., Ficicioglu, C., Freehauf, C., Frithiof, D., Gotway, G., Hirabayashi, K., Hofstede, F., Hoganson, G., Hwu, W-L., James, P., Kim, S., Korman, S. H., Lachmann, R., Levy, H., Lindner, M., Lykopoulou, L., Mayatepek, E., Muntau, A., Okano, Y., Raymond, K., Rubio-Gozalbo, E., Scholl-Bürgi, S., Schulze, A., Singh, R., Stabler, S., Stuy, M., Thomas, J., Wagner, C., Wilson, W. G., Wortmann, S., Yamamoto, S., Pao, M. & Blom, H. J., 20.08.2015, In: ORPHANET J RARE DIS. 10, p. Art. 99Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotypic and molecular insights into CASK-related disorders in males
Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12.04.2015, In: ORPHANET J RARE DIS. 10, 1, p. 44Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Thoenes, M., Zimmermann, U., Ebermann, I., Ptok, M., Lewis, M. A., Thiele, H., Morlot, S., Hess, M. M., Gal, A., Eisenberger, T., Bergmann, C., Nürnberg, G., Nürnberg, P., Steel, K. P., Knipper, M. & Bolz, H. J., 2015, In: ORPHANET J RARE DIS. 10, p. 15Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2014
The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome
Sheikhzadeh, S., De Backer, J., Gorgan, N. R., Rybczynski, M., Hillebrand, M., Schüler, H., Bernhardt, A. M., Koschyk, D., Bannas, P., Keyser, B., Mortensen, K., Radke, R. M., Mir, T. S., Kölbel, T., Robinson, P. N., Schmidtke, J., Berger, J., Blankenberg, S. & Kodolitsch, Y., 10.12.2014, In: ORPHANET J RARE DIS. 9, 1, p. 203Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., Maiorana, A., Dionisi-Vici, C., Moeslinger, D., Brunner-Krainz, M., Lotz-Havla, A. S., Cocho de Juan, J. A., Couce Pico, M. L., Santer, R., Scholl-Bürgi, S., Mandel, H., Bliksrud, Y. T., Freisinger, P., Aldamiz-Echevarria, L. J., Hochuli, M., Gautschi, M., Endig, J., Jordan, J., McKiernan, P., Ernst, S., Morlot, S., Vogel, A., Sander, J. & Das, A. M., 01.08.2014, In: ORPHANET J RARE DIS. 9, p. 107Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The economic impact of Marfan syndrome: a non-experimental, retrospective, population-based matched cohort study
Achelrod, D., Blankart, C. R., Linder, R., von Kodolitsch, Y. & Stargardt, T., 23.06.2014, In: ORPHANET J RARE DIS. 9, p. 90Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
Kehrer, C., Groeschel, S., Kustermann-Kuhn, B., Bürger, F., Köhler, W., Kohlschütter, A., Bley, A., Steinfeld, R., Gieselmann, V., Krägeloh-Mann, I. & German LEUKONET, 05.02.2014, In: ORPHANET J RARE DIS. 9, p. 18Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
van Rahden, V. A., Rau, I., Fuchs, S., Kosyna, F. K., de Almeida, H. L., Fryssira, H., Isidor, B., Jauch, A., Joubert, M., Lachmeijer, A. M. A., Zweier, C., Moog, U. & Kutsche, K., 01.01.2014, In: ORPHANET J RARE DIS. 9, 1, p. 53Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2013
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Grünert, S. C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H-G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 10.01.2013, In: ORPHANET J RARE DIS. 8, p. 6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Associated factors and comorbidities in patients with pyoderma gangrenosum in Germany: a retrospective multicentric analysis in 259 patients
Al Ghazal, P., Herberger, K., Schaller, J., Strölin, A., Hoff, N-P., Goerge, T., Roth, H., Rabe, E., Karrer, S., Renner, R., Maschke, J., Horn, T., Hepp, J., Eming, S., Wollina, U., Zutt, M., Sick, I., Splieth, B., Dill, D., Klode, J. & Dissemond, J., 01.01.2013, In: ORPHANET J RARE DIS. 8, p. 136Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2012
Suggested guidelines for the diagnosis and management of urea cycle disorders
Häberle, J., Boddaert, N., Burlina, A., Chakrapani, A., Dixon, M., Huemer, M., Karall, D., Martinelli, D., Crespo, P. S., Santer, R., Servais, A., Valayannopoulos, V., Lindner, M., Rubio, V. & Dionisi-Vici, C., 01.01.2012, In: ORPHANET J RARE DIS. 7, p. 32Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert, S. C., Stucki, M., Morscher, R. J., Suormala, T., Bürer, C., Burda, P., Christensen, E., Ficicioglu, C., Herwig, J., Kölker, S., Möslinger, D., Pasquini, E., Santer, R., Schwab, K. O., Wilcken, B., Fowler, B., Yue, W. W. & Baumgartner, M. R., 2012, In: ORPHANET J RARE DIS. 7, p. 31Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1.
Nguyen, R., Dombi, E., Widemann, B. C., Solomon, J., Fuensterer, C., Kluwe, L., Friedman, J. M. & Mautner, V. F., 2012, In: ORPHANET J RARE DIS. 7, p. 75Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2011
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
Lindner, M., Gramer, G., Haege, G., Fang-Hoffmann, J., Schwab, K. O., Tacke, U., Trefz, F. K., Mengel, E., Wendel, U., Leichsenring, M., Burgard, P. & Hoffmann, G. F., 20.06.2011, In: ORPHANET J RARE DIS. 6, p. 44Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review