ORPHANET J RARE DIS - Orphanet Journal of Rare Diseases
Publications
- 2024
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany - a mixed-methods study
Inhestern, L., Otto, R., Brandt, M., Zybarth, D., Oheim, R., Schüler, H., Mir, T. S., Tsiakas, K., Dibaj, P., Zschüntzsch, J., Okun, P. M., Hegenbart, U., Sommerburg, O., Schramm, C., Weiler-Normann, C., Härter, M. & Bergelt, C., 13.05.2024, In: ORPHANET J RARE DIS. 19, 1, p. 197Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The parent and family impact of CLN3 disease: an observational survey-based study
Schulz, A., Patel, N., Brudvig, J. J., Stehr, F., Weimer, J. M. & Augustine, E. F., 18.03.2024, In: ORPHANET J RARE DIS. 19, 1, p. 125Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2023
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
Gardin, A., Ruiz, M., Beime, J., Cananzi, M., Rathert, M., Rohmer, B., Grabhorn, E., Almes, M., Logarajah, V., Peña-Quintana, L., Casswall, T., Darmellah-Remil, A., Reyes-Domínguez, A., Barkaoui, E., Hierro, L., Baquero-Montoya, C., Baumann, U., Fischler, B., Gonzales, E., Davit-Spraul, A., Laplanche, S. & Jacquemin, E., 07.12.2023, In: ORPHANET J RARE DIS. 18, 1, p. 383Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Living with a rare disease - experiences and needs in pediatric patients and their parents
Witt, S., Schuett, K., Wiegand-Grefe, S., Boettcher, J. & Quitmann, J., 11.08.2023, In: ORPHANET J RARE DIS. 18, 1, p. 242Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature
Wilke, P. I., Biermann, D., Grafmann, M., Kozlik-Feldmann, R., Papingi, D., Sachweh, J. S., Stute, F. & Olfe, J., 05.07.2023, In: ORPHANET J RARE DIS. 18, 1, p. 178Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Impact of the COVID-19 pandemic on health care and daily life of patients with rare diseases from the perspective of patient organizations - a qualitative interview study
Zybarth, D., Brandt, M., Mundlos, C. & Inhestern, L., 21.06.2023, In: ORPHANET J RARE DIS. 18, 1, p. 154Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transition for adolescents with a rare disease: results of a nationwide German project
Grasemann, C., Höppner, J., Burgard, P., Schündeln, M. M., Matar, N., Müller, G., Krude, H., Berner, R., Lee-Kirsch, M. A., Hauck, F., Wainwright, K., Baumgarten, S., Atinga, J., Bauer, J. J., Manka, E., Körholz, J., Kiewert, C., Heinen, A., Kretschmer, T., Kurth, T., Mittnacht, J., Schramm, C., Klein, C., Graessner, H., Hiort, O., Muntau, A. C., Grüters, A., Hoffmann, G. F. & Choukair, D., 25.04.2023, In: ORPHANET J RARE DIS. 18, 1, p. 93Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study
Mund, M., Uhlenbusch, N., Rillig, F., Weiler-Normann, C., Herget, T., Kubisch, C., Löwe, B. & Schramm, C., 14.04.2023, In: ORPHANET J RARE DIS. 18, 1, p. 82 82.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2022
The psychosocial situation of families caring for children with rare diseases during the COVID‑19 pandemic: results of a cross‑sectional online survey
Rihm, L., Dreier, M., Rezvani, F., Wiegand-Grefe, S. & Dirmaier, J., 26.12.2022, In: ORPHANET J RARE DIS. 17, 1, p. 449 449.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sanfilippo syndrome: consensus guidelines for clinical care
Muschol, N., Giugliani, R., Jones, S. A., Muenzer, J., Smith, N. J. C., Whitley, C. B., Donnell, M., Drake, E., Elvidge, K., Melton, L., O'Neill, C. & MPS III Guideline Development Group, 27.10.2022, In: ORPHANET J RARE DIS. 17, 1, p. 391Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Wenzel, F., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Walter, M. C., Bertsche, A., Vill, K., Baumann, M., Baumgartner, M., Cordts, I., Eisenkölbl, A., Flotats-Bastardas, M., Friese, J., Günther, R., Hahn, A., Horber, V., Husain, R. A., Illsinger, S., Jahnel, J., Johannsen, J., Köhler, C., Kölbel, H., Müller, M., von Moers, A., Schwerin-Nagel, A., Reihle, C., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Trollmann, R., Weiler, M., Weiß, C., Wiegand, G., Wilichowski, E., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 23.10.2022, In: ORPHANET J RARE DIS. 17, 1, 384.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)
Theng, E. H., Brewer, C. C., Oheim, R., Zalewski, C. K., King, K. A., Delsmann, M. M., Rolvien, T., Gafni, R. I., Braddock, D. T., Jeffrey Kim, H. & Ferreira, C. R., 19.07.2022, In: ORPHANET J RARE DIS. 17, 1, 273.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs
Brandt, M., Johannsen, L., Inhestern, L. & Bergelt, C., 19.07.2022, In: ORPHANET J RARE DIS. 17, 1, 274.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Factors of family impact in a Swedish-German cohort of children born with esophageal atresia
Dellenmark-Blom, M., Abrahamsson, K., Dingemann, J., Witt, S., Dingemann, C., Jönsson, L., Gatzinsky, V., Bullinger, M., Ure, B. M., Chaplin, J. E. & Quitmann, J. H., 21.05.2022, In: ORPHANET J RARE DIS. 17, 1, 207.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
Lanar, S., Parker, S., O'Neill, C., Marrel, A., Arnould, B., Héron, B., Muschol, N., Wijburg, F. A., Chakrapani, A., Olivier, S. & Aiach, K., 22.02.2022, In: ORPHANET J RARE DIS. 17, 1, p. 75Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study
Hebestreit, H., Zeidler, C., Schippers, C., de Zwaan, M., Deckert, J., Heuschmann, P., Krauth, C., Bullinger, M., Berger, A., Berneburg, M., Brandstetter, L., Deibele, A., Dieris-Hirche, J., Graessner, H., Gündel, H., Herpertz, S., Heuft, G., Lapstich, A-M., Lücke, T., Maisch, T., Mundlos, C., Petermann-Meyer, A., Müller, S., Ott, S., Pfister, L., Quitmann, J., Romanos, M., Rutsch, F., Schaubert, K., Schubert, K., Schulz, J. B., Schweiger, S., Tüscher, O., Ungethüm, K., Wagner, T. O. F., Haas, K. & ZSE-DUO working group, 14.02.2022, In: ORPHANET J RARE DIS. 17, 1, 47.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2021
Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic
Fuerboeter, M., Boettcher, J., Barkmann, C., Zapf, H., Nazarian, R., Wiegand-Grefe, S., Reinshagen, K. & Boettcher, M., 27.11.2021, In: ORPHANET J RARE DIS. 16, 1, p. 498Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany
Witt, S., Kristensen, K., Wiegand-Grefe, S., Boettcher, J., Bloemeke, J., Wingartz, C., Bullinger, M., Quitmann, J. & CARE-FAM-NET Studiengruppe, 27.11.2021, In: ORPHANET J RARE DIS. 16, 1, 497.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease
Atiskova, Y., Wildner, J., Spitzer, M. S., Aries, C., Muschol, N. & Dulz, S., 20.11.2021, In: ORPHANET J RARE DIS. 16, 1, 485.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Alterations in brain morphology by MRI in adults with neurofibromatosis 1
Wang, S., Mautner, V-F., Buchert, R., Flibotte, S., Suppa, P., Friedman, J. M. & Heran, M. K. S., 02.11.2021, In: ORPHANET J RARE DIS. 16, 1, 462.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
Schmidt, T., Schmidt, C., Amling, M., Kramer, J. & Barvencik, F., 28.10.2021, In: ORPHANET J RARE DIS. 16, 1, 452.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Saffari, A., Cannet, C., Blaschek, A., Hahn, A., Hoffmann, G. F., Johannsen, J., Kirsten, R., Kockaya, M., Kölker, S., Müller-Felber, W., Roos, A., Schäfer, H., Schara, U., Spraul, M., Trefz, F. K., Vill, K., Wick, W., Weiler, M., Okun, J. G. & Ziegler, A., 20.10.2021, In: ORPHANET J RARE DIS. 16, 1, 441.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Perceived mental health in parents of children with rare congenital surgical diseases: a double ABCX model considering gender
Boettcher, J., Zapf, H., Fuerboeter, M., Nazarian, R., Reinshagen, K., Wiegand-Grefe, S. & Boettcher, M., 09.09.2021, In: ORPHANET J RARE DIS. 16, 1, p. 384Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., Leuzzi, V., Sivri, H. S., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Lane, P., Alvarez, I. & Rutsch, F., 03.08.2021, In: ORPHANET J RARE DIS. 16, 1, p. 341Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
Bassanese, G., Wlodkowski, T., Servais, A., Heidet, L., Roccatello, D., Emma, F., Levtchenko, E., Ariceta, G., Bacchetta, J., Capasso, G., Jankauskiene, A., Miglinas, M., Ferraro, P. M., Montini, G., Oh, J., Decramer, S., Levart, T. K., Wetzels, J., Cornelissen, E., Devuyst, O., Zurowska, A., Pape, L., Buescher, A., Haffner, D., Marcun Varda, N., Ghiggeri, G. M., Remuzzi, G., Konrad, M., Longo, G., Bockenhauer, D., Awan, A., Andersone, I., Groothoff, J. W. & Schaefer, F., 02.06.2021, In: ORPHANET J RARE DIS. 16, 1, p. 251Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Bley, A., Denecke, J., Kohlschütter, A., Schön, G., Hischke, S., Guder, P., Bierhals, T., Lau, H., Hempel, M. & Eichler, F. S., 19.05.2021, In: ORPHANET J RARE DIS. 16, 1, p. 227Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Investigating health-related quality of life in rare diseases:a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)
Gissen, P., Specchio, N., Olaye, A., Jain, M., Butt, T., Ghosh, W., Ruban-Fell, B., Griffiths, A., Camp, C., Sisic, Z., Schwering, C., Wibbeler, E., Trivisano, M., Lee, L., Nickel, M., Mortensen, A. & Schulz, A., 12.05.2021, In: ORPHANET J RARE DIS. 16, 1, 217.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
Mole, S. E., Schulz, A., Badoe, E., Berkovic, S. F., de Los Reyes, E. C., Dulz, S., Gissen, P., Guelbert, N., Lourenco, C. M., Mason, H. L., Mink, J. W., Murphy, N., Nickel, M., Olaya, J. E., Scarpa, M., Scheffer, I. E., Simonati, A., Specchio, N., Von Löbbecke, I., Wang, R. Y. & Williams, R. E., 21.04.2021, In: ORPHANET J RARE DIS. 16, 1, 185.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Parent-child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish-German cross-sectional study
Witt, S., Dellenmark-Blom, M., Kuckuck, S., Dingemann, J., Abrahamsson, K., Dingemann, C., Chaplin, J. E., Ure, B., Bullinger, M., Gatzinsky, V., Jönsson, L. & Quitmann, J. H., 06.03.2021, In: ORPHANET J RARE DIS. 16, 1, p. 120Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study
Depping, M. K., Uhlenbusch, N., von Kodolitsch, Y., Klose, H. F. E., Mautner, V-F. & Löwe, B., 22.01.2021, In: ORPHANET J RARE DIS. 16, 1, p. 44Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)
Avanesov, M., Well, L., Laqmani, A., Derlin, T., Riccardi, V. M., Adam, G., Mautner, V-F. & Salamon, J., 14.01.2021, In: ORPHANET J RARE DIS. 16, 1, 29.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
Hennermann, J. B., Guffon, N., Cattaneo, F., Ceravolo, F., Borgwardt, L., Lund, A. M., Gil-Campos, M., Tylki-Szymanska, A. & Muschol, N. M., 29.09.2020, In: ORPHANET J RARE DIS. 15, 1, p. 271Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Correction to: PKU dietary handbook to accompany PKU guidelines
MacDonald, A., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. & van Spronsen, F. J., 01.09.2020, In: ORPHANET J RARE DIS. 15, 1, p. 230Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
PKU dietary handbook to accompany PKU guidelines
MacDonald, A., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. & van Spronsen, F. J., 30.06.2020, In: ORPHANET J RARE DIS. 15, 1, p. 171Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Grünert, S. C., Tucci, S., Schumann, A., Schwendt, M., Gramer, G., Hoffmann, G. F., Erbel, M., Stiller, B. & Spiekerkoetter, U., 10.04.2020, In: ORPHANET J RARE DIS. 15, 1, p. 87Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
Cannet, C., Pilotto, A., Rocha, J. C., Schäfer, H., Spraul, M., Berg, D., Nawroth, P., Kasperk, C., Gramer, G., Haas, D., Piel, D., Kölker, S., Hoffmann, G., Freisinger, P. & Trefz, F., 27.02.2020, In: ORPHANET J RARE DIS. 15, 1, p. 61Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2019
Retinal hyperreflective foci in Fabry disease
Atiskova, Y., Rassuli, R., Koehn, A. F., Golsari, A., Wagenfeld, L., du Moulin, M., Muschol, N. & Dulz, S., 26.12.2019, In: ORPHANET J RARE DIS. 14, 1, p. 296Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
van de Laar, I. M. B. H., Arbustini, E., Loeys, B., Björck, E., Murphy, L., Groenink, M., Kempers, M., Timmermans, J., Roos-Hesselink, J., Benke, K., Pepe, G., Mulder, B., Szabolcs, Z., Teixidó-Turà, G., Robert, L., Emmanuel, Y., Evangelista, A., Pini, A., von Kodolitsch, Y., Jondeau, G. & De Backer, J., 21.11.2019, In: ORPHANET J RARE DIS. 14, 1, p. 264Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Quality of life of children with achondroplasia and their parents - a German cross-sectional study
Witt, S., Kolb, B., Bloemeke, J., Mohnike, K., Bullinger, M. & Quitmann, J., 09.08.2019, In: ORPHANET J RARE DIS. 14, 1, p. 194Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data
Trefz, K. F., Muntau, A. C., Kohlscheen, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Schröder, C. & Rutsch, F., 22.07.2019, In: ORPHANET J RARE DIS. 14, 1, p. 181Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
Shapiro, E., Lourenço, C. M., Mungan, N. O., Muschol, N., O'Neill, C. & Vijayaraghavan, S., 08.07.2019, In: ORPHANET J RARE DIS. 14, 1, p. 168Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER
Bernts, L. H. P., Jones, D. E. J., Kaatee, M. M., Lohse, A. W., Schramm, C., Sturm, E. & Drenth, J. P. H., 08.07.2019, In: ORPHANET J RARE DIS. 14, 1, p. 169Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
Muschol, N. M., Pape, D., Kossow, K., Ullrich, K., Arash-Kaps, L., Hennermann, J. B., Stücker, R. & Breyer, S., 02.05.2019, In: ORPHANET J RARE DIS. 14, 1, p. 93Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2018
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
Muntau, A. C., du Moulin, M. & Feillet, F., 29.09.2018, In: ORPHANET J RARE DIS. 13, 1, p. 173Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Can untreated PKU patients escape from intellectual disability? A systematic review
van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Blau, N., Bulut, F. D., Casas, K., Didycz, B., Djordjevic, M., Federico, A., Feillet, F., Gizewska, M., Gramer, G., Hertecant, J. L., Hollak, C. E. M., Jørgensen, J. V., Karall, D., Landau, Y., Leuzzi, V., Mathisen, P., Moseley, K., Mungan, N. Ö., Nardecchia, F., Õunap, K., Powell, K. K., Ramachandran, R., Rutsch, F., Setoodeh, A., Stojiljkovic, M., Trefz, F. K., Usurelu, N., Wilson, C., van Karnebeek, C. D., Hanley, W. B. & van Spronsen, F. J., 29.08.2018, In: ORPHANET J RARE DIS. 13, 1, p. 149Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1
Sellmer, L., Farschtschi, S., Marangoni, M., Heran, M. K. S., Birch, P., Wenzel, R., Mautner, V-F. & Friedman, J. M., 23.04.2018, In: ORPHANET J RARE DIS. 13, p. 62Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
Zwink, N., Dworschak, G. C., Schmiedeke, E., Mortazawi, K., Märzheuser, S., Reinshagen, K., Leonhardt, J., Gómez, B., Volk, P., Rißmann, A., Jenetzky, E. & Reutter, H., 13.12.2017, In: ORPHANET J RARE DIS. 12, 1, p. 180Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The complete European guidelines on phenylketonuria: diagnosis and treatment
van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., van Rijn, M., Trefz, F., Walter, J. H. & van Spronsen, F. J., 12.10.2017, In: ORPHANET J RARE DIS. 12, 1, p. 162Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study
Benninghoven, D., Hamann, D., von Kodolitsch, Y., Rybczynski, M., Lechinger, J., Schroeder, F., Vogler, M. & Hoberg, E., 12.07.2017, In: ORPHANET J RARE DIS. 12, 1, p. 127Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Whipple's disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure
Glaser, C., Rieg, S., Wiech, T., Scholz, C., Endres, D., Stich, O., Hasselblatt, P., Geißdörfer, W., Bogdan, C., Serr, A., Häcker, G., Voll, R. E., Thiel, J. & Venhoff, N., 25.05.2017, In: ORPHANET J RARE DIS. 12, 1, p. 99Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review