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Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive?.

Orphanet journal of rare diseases

Dooms MM.
PMID: 26939863
Orphanet J Rare Dis. 2016 Mar 03;11:22. doi: 10.1186/s13023-016-0393-3.

BACKGROUND: Regulatory and economic frameworks stimulated the research and development of orphan drugs, but very little has been done for devices necessary for the in-vivo diagnosis, prevention and treatment of life-threatening conditions with a low prevalence/incidence.DISCUSSION: A general public...

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Dooms MM. Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive?. Orphanet J Rare Dis. 2016;11:22doi: 10.1186/s13023-016-0393-3.
Dooms, M. M. (2016). Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive?. Orphanet journal of rare diseases, 1122. https://doi.org/10.1186/s13023-016-0393-3
Dooms, Marc M. "Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive?." Orphanet journal of rare diseases vol. 11 (2016): 22. doi: https://doi.org/10.1186/s13023-016-0393-3
Dooms MM. Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive?. Orphanet J Rare Dis. 2016 Mar 03;11:22. doi: 10.1186/s13023-016-0393-3. PMID: 26939863; PMCID: PMC4778287.
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Directions for new developments on statistical design and analysis of small population group trials.

Orphanet journal of rare diseases

Hilgers RD, Roes K, Stallard N.
PMID: 27301273
Orphanet J Rare Dis. 2016 Jun 14;11(1):78. doi: 10.1186/s13023-016-0464-5.

BACKGROUND: Most statistical design and analysis methods for clinical trials have been developed and evaluated where at least several hundreds of patients could be recruited. These methods may not be suitable to evaluate therapies if the sample size is...

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Hilgers RD, Roes K, Stallard N. Directions for new developments on statistical design and analysis of small population group trials. Orphanet J Rare Dis. 2016;11(1):78doi: 10.1186/s13023-016-0464-5.
Hilgers, R. D., Roes, K., Stallard, N. (2016). Directions for new developments on statistical design and analysis of small population group trials. Orphanet journal of rare diseases, 11(1), 78. https://doi.org/10.1186/s13023-016-0464-5
Hilgers, Ralf-Dieter, et al. "Directions for new developments on statistical design and analysis of small population group trials." Orphanet journal of rare diseases vol. 11,1 (2016): 78. doi: https://doi.org/10.1186/s13023-016-0464-5
Hilgers RD, Roes K, Stallard N. Directions for new developments on statistical design and analysis of small population group trials. Orphanet J Rare Dis. 2016 Jun 14;11(1):78. doi: 10.1186/s13023-016-0464-5. PMID: 27301273; PMCID: PMC4908723.
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The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks.

Orphanet journal of rare diseases

Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K.
PMID: 26911987
Orphanet J Rare Dis. 2016 Feb 24;11:17. doi: 10.1186/s13023-016-0398-y.

BACKGROUND: In the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising way to achieve equity in access to the most up to date medical care...

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Evangelista T, Hedley V, Atalaia A, et al. The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks. Orphanet J Rare Dis. 2016;11:17doi: 10.1186/s13023-016-0398-y.
Evangelista, T., Hedley, V., Atalaia, A., Johnson, M., Lynn, S., Le Cam, Y., & Bushby, K. (2016). The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks. Orphanet journal of rare diseases, 1117. https://doi.org/10.1186/s13023-016-0398-y
Evangelista, Teresinha, et al. "The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks." Orphanet journal of rare diseases vol. 11 (2016): 17. doi: https://doi.org/10.1186/s13023-016-0398-y
Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K. The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks. Orphanet J Rare Dis. 2016 Feb 24;11:17. doi: 10.1186/s13023-016-0398-y. PMID: 26911987; PMCID: PMC4765230.
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Abstracts of the 5th European Conference on Rare Diseases (ECRD 2010). Krakow, Poland. May 13-15, 2010.

Orphanet journal of rare diseases

[No authors listed]
PMID: 20964875
Orphanet J Rare Dis. 2010;5:O1-32, P1-28. doi: 10.1186/1750-1172-5-s1-o1.

No abstract available.

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Abstracts of the 5th European Conference on Rare Diseases (ECRD 2010). Krakow, Poland. May 13-15, 2010. Orphanet J Rare Dis. 2010;5:O1-32, P1-28doi: 10.1186/1750-1172-5-s1-o1.
(2010). Abstracts of the 5th European Conference on Rare Diseases (ECRD 2010). Krakow, Poland. May 13-15, 2010. Orphanet journal of rare diseases, 5O1-32, P1-28. https://doi.org/10.1186/1750-1172-5-s1-o1
"Abstracts of the 5th European Conference on Rare Diseases (ECRD 2010). Krakow, Poland. May 13-15, 2010." Orphanet journal of rare diseases vol. 5 (2010): O1-32, P1-28. doi: https://doi.org/10.1186/1750-1172-5-s1-o1
Abstracts of the 5th European Conference on Rare Diseases (ECRD 2010). Krakow, Poland. May 13-15, 2010. Orphanet J Rare Dis. 2010;5:O1-32, P1-28. doi: 10.1186/1750-1172-5-s1-o1. PMID: 20964875; PMCID: PMC2958366.
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The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community.

Orphanet journal of rare diseases

Aymé S, Rodwell C.
PMID: 24580800
Orphanet J Rare Dis. 2014 Feb 28;9:30. doi: 10.1186/1750-1172-9-30.

The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in...

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Aymé S, Rodwell C. The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community. Orphanet J Rare Dis. 2014;9:30doi: 10.1186/1750-1172-9-30.
Aymé, S., & Rodwell, C. (2014). The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community. Orphanet journal of rare diseases, 930. https://doi.org/10.1186/1750-1172-9-30
Aymé, Ségolène, and Rodwell, Charlotte. "The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community." Orphanet journal of rare diseases vol. 9 (2014): 30. doi: https://doi.org/10.1186/1750-1172-9-30
Aymé S, Rodwell C. The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community. Orphanet J Rare Dis. 2014 Feb 28;9:30. doi: 10.1186/1750-1172-9-30. PMID: 24580800; PMCID: PMC3942519.
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Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy.

Orphanet journal of rare diseases

Landfeldt E, Lochmüller H, Lindgren P.
PMID: 30940156
Orphanet J Rare Dis. 2019 Apr 02;14(1):75. doi: 10.1186/s13023-018-0975-3.

No abstract available.

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Landfeldt E, Lochmüller H, Lindgren P. Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy. Orphanet J Rare Dis. 2019;14(1):75doi: 10.1186/s13023-018-0975-3.
Landfeldt, E., Lochmüller, H., & Lindgren, P. (2019). Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy. Orphanet journal of rare diseases, 14(1), 75. https://doi.org/10.1186/s13023-018-0975-3
Landfeldt, Erik, et al. "Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy." Orphanet journal of rare diseases vol. 14,1 (2019): 75. doi: https://doi.org/10.1186/s13023-018-0975-3
Landfeldt E, Lochmüller H, Lindgren P. Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy. Orphanet J Rare Dis. 2019 Apr 02;14(1):75. doi: 10.1186/s13023-018-0975-3. PMID: 30940156; PMCID: PMC6446357.
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Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Orphanet journal of rare diseases

Ramakers R, Koene S, Groothuis JT, de Laat P, Janssen MCH, Smeitink J.
PMID: 29078792
Orphanet J Rare Dis. 2017 Oct 27;12(1):170. doi: 10.1186/s13023-017-0688-z.

No abstract available.

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Ramakers R, Koene S, Groothuis JT, et al. Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study. Orphanet J Rare Dis. 2017;12(1):170doi: 10.1186/s13023-017-0688-z.
Ramakers, R., Koene, S., Groothuis, J. T., de Laat, P., Janssen, M. C. H., & Smeitink, J. (2017). Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study. Orphanet journal of rare diseases, 12(1), 170. https://doi.org/10.1186/s13023-017-0688-z
Ramakers, Rob, et al. "Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study." Orphanet journal of rare diseases vol. 12,1 (2017): 170. doi: https://doi.org/10.1186/s13023-017-0688-z
Ramakers R, Koene S, Groothuis JT, de Laat P, Janssen MCH, Smeitink J. Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study. Orphanet J Rare Dis. 2017 Oct 27;12(1):170. doi: 10.1186/s13023-017-0688-z. PMID: 29078792; PMCID: PMC5660442.
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Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.

Orphanet journal of rare diseases

Attarian S, Vallat JM, Magy L, Funalot B, Gonnaud PM, Lacour A, Péréon Y, Dubourg O, Pouget J, Micallef J, Franques J, Lefebvre MN, Ghorab K, Al-Moussawi M, Tiffreau V, Preudhomme M, Magot A, Leclair-Visonneau L, Stojkovic T, Bossi L, Lehert P, Gilbert W, Bertrand V, Mandel J, Milet A, Hajj R, Boudiaf L, Scart-Grès C, Nabirotchkin S, Guedj M, Chumakov I, Cohen D.
PMID: 27387831
Orphanet J Rare Dis. 2016 Jul 07;11(1):92. doi: 10.1186/s13023-016-0463-6.

No abstract available.

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Attarian S, Vallat JM, Magy L, et al. Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. Orphanet J Rare Dis. 2016;11(1):92doi: 10.1186/s13023-016-0463-6.
Attarian, S., Vallat, J. M., Magy, L., Funalot, B., Gonnaud, P. M., Lacour, A., Péréon, Y., Dubourg, O., Pouget, J., Micallef, J., Franques, J., Lefebvre, M. N., Ghorab, K., Al-Moussawi, M., Tiffreau, V., Preudhomme, M., Magot, A., Leclair-Visonneau, L., Stojkovic, T., Bossi, L., Lehert, P., Gilbert, W., Bertrand, V., Mandel, J., Milet, A., Hajj, R., Boudiaf, L., Scart-Grès, C., Nabirotchkin, S., Guedj, M., Chumakov, I., & Cohen, D. (2016). Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. Orphanet journal of rare diseases, 11(1), 92. https://doi.org/10.1186/s13023-016-0463-6
Attarian, Shahram, et al. "Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A." Orphanet journal of rare diseases vol. 11,1 (2016): 92. doi: https://doi.org/10.1186/s13023-016-0463-6
Attarian S, Vallat JM, Magy L, Funalot B, Gonnaud PM, Lacour A, Péréon Y, Dubourg O, Pouget J, Micallef J, Franques J, Lefebvre MN, Ghorab K, Al-Moussawi M, Tiffreau V, Preudhomme M, Magot A, Leclair-Visonneau L, Stojkovic T, Bossi L, Lehert P, Gilbert W, Bertrand V, Mandel J, Milet A, Hajj R, Boudiaf L, Scart-Grès C, Nabirotchkin S, Guedj M, Chumakov I, Cohen D. Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. Orphanet J Rare Dis. 2016 Jul 07;11(1):92. doi: 10.1186/s13023-016-0463-6. PMID: 27387831; PMCID: PMC4937550.
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Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness.

Orphanet journal of rare diseases

Williams LZJ.
PMID: 30813964
Orphanet J Rare Dis. 2019 Feb 28;14(1):53. doi: 10.1186/s13023-019-1024-6.

Medical students automatically couple rare illnesses with biomedical minutiae. Upon meeting CS (pseudonym), a 5-year-old boy with Worster Drought Syndrome, I became inadvertently caught in the trap of focusing on his diagnosis rather than CS as a patient. I...

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Williams LZJ. Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness. Orphanet J Rare Dis. 2019;14(1):53doi: 10.1186/s13023-019-1024-6.
Williams, L. Z. J. (2019). Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness. Orphanet journal of rare diseases, 14(1), 53. https://doi.org/10.1186/s13023-019-1024-6
Williams, Logan Zane John. "Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness." Orphanet journal of rare diseases vol. 14,1 (2019): 53. doi: https://doi.org/10.1186/s13023-019-1024-6
Williams LZJ. Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness. Orphanet J Rare Dis. 2019 Feb 28;14(1):53. doi: 10.1186/s13023-019-1024-6. PMID: 30813964; PMCID: PMC6394087.
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Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

Orphanet journal of rare diseases

Pittaway JFH, Harrison C, Rhee Y, Holder-Espinasse M, Fryer AE, Cundy T, Drake WM, Irving MD.
PMID: 31077240
Orphanet J Rare Dis. 2019 May 10;14(1):104. doi: 10.1186/s13023-019-1084-7.

After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below.

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Pittaway JFH, Harrison C, Rhee Y, et al. Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. Orphanet J Rare Dis. 2019;14(1):104doi: 10.1186/s13023-019-1084-7.
Pittaway, J. F. H., Harrison, C., Rhee, Y., Holder-Espinasse, M., Fryer, A. E., Cundy, T., Drake, W. M., & Irving, M. D. (2019). Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. Orphanet journal of rare diseases, 14(1), 104. https://doi.org/10.1186/s13023-019-1084-7
Pittaway, James F H, et al. "Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review." Orphanet journal of rare diseases vol. 14,1 (2019): 104. doi: https://doi.org/10.1186/s13023-019-1084-7
Pittaway JFH, Harrison C, Rhee Y, Holder-Espinasse M, Fryer AE, Cundy T, Drake WM, Irving MD. Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. Orphanet J Rare Dis. 2019 May 10;14(1):104. doi: 10.1186/s13023-019-1084-7. PMID: 31077240; PMCID: PMC6509852.
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An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet journal of rare diseases

Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H.
PMID: 30626441
Orphanet J Rare Dis. 2019 Jan 09;14(1):8. doi: 10.1186/s13023-018-0980-6.

BACKGROUND: The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical heterogeneity and...

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Sergouniotis PI, Maxime E, Leroux D, et al. An ontological foundation for ocular phenotypes and rare eye diseases. Orphanet J Rare Dis. 2019;14(1):8doi: 10.1186/s13023-018-0980-6.
Sergouniotis, P. I., Maxime, E., Leroux, D., Olry, A., Thompson, R., Rath, A., Robinson, P. N., Dollfus, H. (2019). An ontological foundation for ocular phenotypes and rare eye diseases. Orphanet journal of rare diseases, 14(1), 8. https://doi.org/10.1186/s13023-018-0980-6
Sergouniotis, Panagiotis I, et al. "An ontological foundation for ocular phenotypes and rare eye diseases." Orphanet journal of rare diseases vol. 14,1 (2019): 8. doi: https://doi.org/10.1186/s13023-018-0980-6
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H. An ontological foundation for ocular phenotypes and rare eye diseases. Orphanet J Rare Dis. 2019 Jan 09;14(1):8. doi: 10.1186/s13023-018-0980-6. PMID: 30626441; PMCID: PMC6327432.
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Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

Orphanet journal of rare diseases

Sekijima Y, Ueda M, Koike H, Misawa S, Ishii T, Ando Y.
PMID: 31113447
Orphanet J Rare Dis. 2019 May 21;14(1):111. doi: 10.1186/s13023-019-1092-7.

.

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Sekijima Y, Ueda M, Koike H, et al. Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis. 2019;14(1):111doi: 10.1186/s13023-019-1092-7.
Sekijima, Y., Ueda, M., Koike, H., Misawa, S., Ishii, T., & Ando, Y. (2019). Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet journal of rare diseases, 14(1), 111. https://doi.org/10.1186/s13023-019-1092-7
Sekijima, Yoshiki, et al. "Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm." Orphanet journal of rare diseases vol. 14,1 (2019): 111. doi: https://doi.org/10.1186/s13023-019-1092-7
Sekijima Y, Ueda M, Koike H, Misawa S, Ishii T, Ando Y. Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis. 2019 May 21;14(1):111. doi: 10.1186/s13023-019-1092-7. PMID: 31113447; PMCID: PMC6530195.
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Showing 1 to 12 of 214 entries