-
1
-
-
84940790776
-
-
(accessed December 15)
-
European Commission Rare diseases (n.d.), (accessed December 15, 2014). http://ec.europa.eu/health/ph_threats/non_com/rare_diseases_en.htm.
-
(2014)
Rare diseases
-
-
-
2
-
-
84940797195
-
-
(accessed December 15)
-
Office of Rare Diseases Research, National Institutes of Health Rare diseases and related terms (n.d.), (accessed December 15, 2014). http://rarediseases.info.nih.gov/RareDiseaseList.aspx.
-
(2014)
Rare diseases and related terms
-
-
-
3
-
-
84921848624
-
NCL 2014. Abstracts of the 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten disease) & 2nd International Patients Organization Meeting
-
NCL 2014. Abstracts of the 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten disease) & 2nd International Patients Organization Meeting. Medicina (B. Aires) 2014, 74 Suppl. II:11-33. R. Kohan, I.A. Cismondi, I. Noher de Halac (Eds.).
-
(2014)
Medicina (B. Aires)
, pp. 11-33
-
-
Kohan, R.1
Cismondi, I.A.2
Noher de Halac, I.3
-
4
-
-
84881551369
-
Funding resources for rare disease research
-
Stehr F., Forkel M. Funding resources for rare disease research. Biochim. Biophys. Acta 2013, 1832:1910-1912. 10.1016/j.bbadis.2013.04.016.
-
(2013)
Biochim. Biophys. Acta
, vol.1832
, pp. 1910-1912
-
-
Stehr, F.1
Forkel, M.2
-
5
-
-
84887882549
-
Niemann-Pick's and Gaucher's diseases
-
Stern G. Niemann-Pick's and Gaucher's diseases. Parkinsonism Relat. Disord. 2014, 20(Suppl. 1):S143-S146. 10.1016/S1353-8020(13)70034-8.
-
(2014)
Parkinsonism Relat. Disord.
, vol.20
, pp. S143-S146
-
-
Stern, G.1
-
6
-
-
84902140288
-
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes
-
Alcalay R.N., Dinur T., Quinn T., Sakanaka K., Levy O., Waters C., et al. Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol. 2014, 71:752-757. 10.1001/jamaneurol.2014.313.
-
(2014)
JAMA Neurol.
, vol.71
, pp. 752-757
-
-
Alcalay, R.N.1
Dinur, T.2
Quinn, T.3
Sakanaka, K.4
Levy, O.5
Waters, C.6
-
7
-
-
84862842664
-
Regarding a case report: rare diseases and bibliometric impact factor
-
Ruano-Ravina A., Pérez-Ríos M. Regarding a case report: rare diseases and bibliometric impact factor. J. Clin. Epidemiol. 2012, 65:916-917. 10.1016/j.jclinepi.2012.02.015.
-
(2012)
J. Clin. Epidemiol.
, vol.65
, pp. 916-917
-
-
Ruano-Ravina, A.1
Pérez-Ríos, M.2
-
8
-
-
48149093656
-
The impact factor and editorial decisions
-
Matías-Guiu J., García-Ramos R. The impact factor and editorial decisions. Neurologia 2008, 23:342-348.
-
(2008)
Neurologia
, vol.23
, pp. 342-348
-
-
Matías-Guiu, J.1
García-Ramos, R.2
-
9
-
-
79953161288
-
The case for a global rare-diseases registry
-
Forrest C.B., Bartek R.J., Rubinstein Y., Groft S.C. The case for a global rare-diseases registry. Lancet 2011, 377:1057-1059. 10.1016/S0140-6736(10)60680-0.
-
(2011)
Lancet
, vol.377
, pp. 1057-1059
-
-
Forrest, C.B.1
Bartek, R.J.2
Rubinstein, Y.3
Groft, S.C.4
-
10
-
-
84940787063
-
-
(accessed December 15)
-
National Organization for Rare Disorders Significance of Rare Diseases (n.d.), (accessed December 15, 2014). http://www.rarediseaseawareness.com/legislation-support/significance-of-rare-diseases.
-
(2014)
Significance of Rare Diseases
-
-
-
11
-
-
84887473488
-
-
Agency for Healthcare Research and Quality, US
-
Ratko T.A., Marbella A., Godfrey S., Aronson N. Enzyme-Replacement Therapies for Lysosomal Storage Diseases 2013, Agency for Healthcare Research and Quality, US.
-
(2013)
Enzyme-Replacement Therapies for Lysosomal Storage Diseases
-
-
Ratko, T.A.1
Marbella, A.2
Godfrey, S.3
Aronson, N.4
-
13
-
-
84940796142
-
World health dilemmas: orphan and rare diseases, orphan drugs and orphan patients
-
Kontoghiorghe C.N., Andreou N., Constantinou K., Kontoghiorghes G.J. World health dilemmas: orphan and rare diseases, orphan drugs and orphan patients. World J. Methodol. 2014, 4:163-188. 10.5662/wjm.v4.i3.163.
-
(2014)
World J. Methodol.
, vol.4
, pp. 163-188
-
-
Kontoghiorghe, C.N.1
Andreou, N.2
Constantinou, K.3
Kontoghiorghes, G.J.4
-
14
-
-
79956262686
-
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses
-
Kohan R., Cismondi I.A., Oller-Ramirez A.M., Guelbert N., Anzolini T.V., Alonso G., et al. Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. Curr. Pharm. Biotechnol. 2011, 12:867-883.
-
(2011)
Curr. Pharm. Biotechnol.
, vol.12
, pp. 867-883
-
-
Kohan, R.1
Cismondi, I.A.2
Oller-Ramirez, A.M.3
Guelbert, N.4
Anzolini, T.V.5
Alonso, G.6
-
15
-
-
84880072331
-
Rare diseases research: expanding collaborative translational research opportunities
-
Groft S.C. Rare diseases research: expanding collaborative translational research opportunities. Chest 2013, 144:16. 10.1378/chest.13-0606.
-
(2013)
Chest
, vol.144
, pp. 16
-
-
Groft, S.C.1
-
17
-
-
84940789385
-
-
(n.d., accessed December 15)
-
The National Organization for Rare Disorders (NORD) (n.d., accessed December 15, 2014). https://www.rarediseases.org/.
-
(2014)
-
-
-
18
-
-
84930164470
-
-
(accessed January 12)
-
U.S.Food and Drud Administration Developing Products for Rare Diseases & Conditions (accessed January 12, 2015). http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/ucm2005525.htm.
-
(2015)
Developing Products for Rare Diseases & Conditions
-
-
-
19
-
-
84940796594
-
-
(n.d., accessed January 12)
-
Office of Rare Diseases Research, National Institutes of Health (n.d., accessed January 12, 2015). http://rarediseases.info.nih.gov/.
-
(2015)
-
-
-
20
-
-
84940795032
-
-
(accessed January 04)
-
United Nations Educational Scientific and Cultural Organization Universal Declaration on Bioethics and Human Rights (accessed January 04, 2015). http://www.unesco.org/new/es/.
-
(2015)
Universal Declaration on Bioethics and Human Rights
-
-
-
22
-
-
84964696362
-
Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning
-
Eggink H., Kuiper A., Peall K.J., Contarino M., Bosch A.M., Post B., et al. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. Orphanet J. Rare Dis. 2014, 9:177. 10.1186/s13023-014-0177-6.
-
(2014)
Orphanet J. Rare Dis.
, vol.9
, pp. 177
-
-
Eggink, H.1
Kuiper, A.2
Peall, K.J.3
Contarino, M.4
Bosch, A.M.5
Post, B.6
-
23
-
-
85017316414
-
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review
-
Zeltner N.A., Huemer M., Baumgartner M.R., Landolt M.A. Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review. Orphanet J. Rare Dis. 2014, 9:159. 10.1186/s13023-014-0159-8.
-
(2014)
Orphanet J. Rare Dis.
, vol.9
, pp. 159
-
-
Zeltner, N.A.1
Huemer, M.2
Baumgartner, M.R.3
Landolt, M.A.4
-
24
-
-
84908153966
-
A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region
-
Soon S.-S., Lopes G., Lim H.-Y., Wong-Rieger D., Bahri S., Hickinbotham L., et al. A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region. Orphanet J. Rare Dis. 2014, 9:137. 10.1186/s13023-014-0137-1.
-
(2014)
Orphanet J. Rare Dis.
, vol.9
, pp. 137
-
-
Soon, S.-S.1
Lopes, G.2
Lim, H.-Y.3
Wong-Rieger, D.4
Bahri, S.5
Hickinbotham, L.6
-
25
-
-
84940791237
-
-
(n.d., accessed January 06)
-
The Human Variome Project (n.d., accessed January 06, 2015). http://www.humanvariomeproject.org/.
-
(2015)
-
-
-
26
-
-
84940794289
-
-
(n.d., accessed January 06)
-
Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal (SLEIMPN) (n.d., accessed January 06, 2015). http://www.sleimpn.org/.
-
(2015)
-
-
-
29
-
-
80052972993
-
When ethics constrains clinical research: trial design of control arms in "greater than minimal risk" pediatric trials
-
de Melo-Martín I., Sondhi D., Crystal R.G. When ethics constrains clinical research: trial design of control arms in "greater than minimal risk" pediatric trials. Hum. Gene Ther. 2011, 22:1121-1127. 10.1089/hum.2010.230.
-
(2011)
Hum. Gene Ther.
, vol.22
, pp. 1121-1127
-
-
de Melo-Martín, I.1
Sondhi, D.2
Crystal, R.G.3
-
30
-
-
84902212511
-
Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases
-
Kleiderman E., Knoppers B.M., Fernandez C.V., Boycott K.M., Ouellette G., Wong-Rieger D., et al. Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases. J. Med. Ethics 2014, 40:691-696. 10.1136/medethics-2013-101648.
-
(2014)
J. Med. Ethics
, vol.40
, pp. 691-696
-
-
Kleiderman, E.1
Knoppers, B.M.2
Fernandez, C.V.3
Boycott, K.M.4
Ouellette, G.5
Wong-Rieger, D.6
-
31
-
-
84875178404
-
Technical report: ethical and policy issues in genetic testing and screening of children
-
Ross L.F., Ross L.F., Saal H.M., David K.L., Anderson R.R. Technical report: ethical and policy issues in genetic testing and screening of children. Genet. Med. 2013, 15:234-245. 10.1038/gim.2012.176.
-
(2013)
Genet. Med.
, vol.15
, pp. 234-245
-
-
Ross, L.F.1
Ross, L.F.2
Saal, H.M.3
David, K.L.4
Anderson, R.R.5
-
32
-
-
84925070965
-
Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis
-
Augustine E.F., Adams H.R., Beck C.A., Vierhile A., Kwon J., Rothberg P.G., et al. Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. Dev. Med. Child Neurol. 2014, 10.1111/dmcn.12634.
-
(2014)
Dev. Med. Child Neurol.
-
-
Augustine, E.F.1
Adams, H.R.2
Beck, C.A.3
Vierhile, A.4
Kwon, J.5
Rothberg, P.G.6
-
33
-
-
84879774101
-
NCL disorders: frequent causes of childhood dementia., Iran
-
Schulz A., Kohlschütter A. NCL disorders: frequent causes of childhood dementia., Iran. J. Child Neurol. 2013, 7:1-8.
-
(2013)
J. Child Neurol.
, vol.7
, pp. 1-8
-
-
Schulz, A.1
Kohlschütter, A.2
-
34
-
-
84940790678
-
Medical education: the role of patients
-
Nourissier C. Medical education: the role of patients. Orphanet J. Rare Dis. 2010, 5:O26. 10.1186/1750-1172-5-S1-O26.
-
(2010)
Orphanet J. Rare Dis.
, vol.5
, pp. O26
-
-
Nourissier, C.1
-
35
-
-
84886641532
-
The Italian project to increase health professionals' training and awareness on rare diseases
-
Bellagambi S. The Italian project to increase health professionals' training and awareness on rare diseases. Orphanet J. Rare Dis. 2012, 7:A16. 10.1186/1750-1172-7-S2-A16.
-
(2012)
Orphanet J. Rare Dis.
, vol.7
, pp. A16
-
-
Bellagambi, S.1
-
36
-
-
80052809229
-
University center on rare diseases, as a successful example of the integration of the clinical sector into the system of medical education
-
Vadachkoriia Z.O., Abesadze G.G., Pagava K.I., Korinteli I.A. University center on rare diseases, as a successful example of the integration of the clinical sector into the system of medical education. Georgian Med. News 2011, 20-22.
-
(2011)
Georgian Med. News
, pp. 20-22
-
-
Vadachkoriia, Z.O.1
Abesadze, G.G.2
Pagava, K.I.3
Korinteli, I.A.4
-
37
-
-
84940788066
-
Contribution of rare disease patient organisations to medical education
-
von Gizycki R. Contribution of rare disease patient organisations to medical education. Orphanet J. Rare Dis. 2010, 5:O25. 10.1186/1750-1172-5-S1-O25.
-
(2010)
Orphanet J. Rare Dis.
, vol.5
, pp. O25
-
-
von Gizycki, R.1
-
38
-
-
84923762812
-
A new initiative on precision medicine
-
Collins F.S., Varmus H. A new initiative on precision medicine. N. Engl. J. Med. 2015, 372:793-795. 10.1056/NEJMp1500523.
-
(2015)
N. Engl. J. Med.
, vol.372
, pp. 793-795
-
-
Collins, F.S.1
Varmus, H.2
|