-
1
-
-
44849143056
-
Why rare diseases are an important medical and social issue
-
Schieppati A, Henter J-I, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet (London, England). 2008;371:2039-41.
-
(2008)
Lancet (London, England)
, vol.371
, pp. 2039-2041
-
-
Schieppati, A.1
Henter, J.-I.2
Daina, E.3
Aperia, A.4
-
2
-
-
77957749180
-
Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)
-
20609392 2930109
-
Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, et al. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Contemp Clin Trials. 2010;31:394-404.
-
(2010)
Contemp Clin Trials
, vol.31
, pp. 394-404
-
-
Rubinstein, Y.R.1
Groft, S.C.2
Bartek, R.3
Brown, K.4
Christensen, R.A.5
Collier, E.6
-
4
-
-
84864290191
-
Classification and codification of rare diseases
-
22521575
-
Kodra Y, Fantini B, Taruscio D. Classification and codification of rare diseases. J Clin Epidemiol. 2012;65:1026-7.
-
(2012)
J Clin Epidemiol
, vol.65
, pp. 1026-1027
-
-
Kodra, Y.1
Fantini, B.2
Taruscio, D.3
-
5
-
-
84899918661
-
The European Union policy in the field of rare diseases
-
1:STN:280:DC%2BC2cvivFertA%3D%3D
-
Montserrat Moliner A, Waligóra J. The European Union policy in the field of rare diseases. Public Health Genom. 2013;16:268-77.
-
(2013)
Public Health Genom
, vol.16
, pp. 268-277
-
-
Montserrat Moliner, A.1
Waligóra, J.2
-
7
-
-
84920681648
-
National registries of rare diseases in Europe: An overview of the current situation and experiences
-
25228300
-
Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, et al. National registries of rare diseases in Europe: an overview of the current situation and experiences. Public Health Genomics. 2015;18:20-5.
-
(2015)
Public Health Genomics.
, vol.18
, pp. 20-25
-
-
Taruscio, D.1
Vittozzi, L.2
Choquet, R.3
Heimdal, K.4
Iskrov, G.5
Kodra, Y.6
-
9
-
-
84861532036
-
The rare diseases clinical research network contact registry update: Features and functionality
-
22405970 3652679
-
Richesson RL, Sutphen R, Shereff D, Krischer JP. The rare diseases clinical research network contact registry update: features and functionality. Contemp Clin Trials. 2012;33:647-56.
-
(2012)
Contemp Clin Trials
, vol.33
, pp. 647-656
-
-
Richesson, R.L.1
Sutphen, R.2
Shereff, D.3
Krischer, J.P.4
-
10
-
-
84899940552
-
New and evolving rare diseases research programs at the National Institutes of Health
-
1:STN:280:DC%2BC2cvivFertw%3D%3D 24503586
-
Groft SC, Rubinstein YR. New and evolving rare diseases research programs at the National Institutes of Health. Public Health Genomics. 2013;16:259-67.
-
(2013)
Public Health Genomics.
, vol.16
, pp. 259-267
-
-
Groft, S.C.1
Rubinstein, Y.R.2
-
11
-
-
84926436139
-
® Common Data Elements: A leading force for standardized data collection
-
25797358 4450118
-
® Common Data Elements: a leading force for standardized data collection. Contemp Clin Trials. 2015;42:78-80.
-
(2015)
Contemp Clin Trials
, vol.42
, pp. 78-80
-
-
Rubinstein, Y.R.1
McInnes, P.2
-
12
-
-
85032357165
-
Fabry disease in latin America: Data from the fabry registry
-
1:STN:280:DC%2BC3svgtlyksg%3D%3D 23430525
-
Villalobos J, Politei JM, Martins AM, Cabrera G, Amartino H, Lemay R, Ospina S, Ordoñez SS, Varas C. Fabry disease in latin America: data from the fabry registry. JIMD Rep. 2013;8:91-9.
-
(2013)
JIMD Rep
, vol.8
, pp. 91-99
-
-
Villalobos, J.1
Politei, J.M.2
Martins, A.M.3
Cabrera, G.4
Amartino, H.5
Lemay, R.6
Ospina, S.7
Ordoñez, S.S.8
Varas, C.9
-
13
-
-
84975784705
-
Rare diseases in Europe: From a wide to a local perspective
-
27468531
-
Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D. Rare diseases in Europe: from a wide to a local perspective. Isr Med Assoc J. 2016;18:359-63.
-
(2016)
Isr Med Assoc J
, vol.18
, pp. 359-363
-
-
Baldovino, S.1
Moliner, A.M.2
Taruscio, D.3
Daina, E.4
Roccatello, D.5
-
14
-
-
73949126440
-
A study of variations in the reported haemophilia A prevalence around the world
-
1:STN:280:DC%2BC3cjgs12itA%3D%3D 19845775
-
Stonebraker JS, Bolton-Maggs PHB, Soucie JM, Walker I, Brooker M. A study of variations in the reported haemophilia A prevalence around the world. Haemophilia. 2010;16:20-32.
-
(2010)
Haemophilia
, vol.16
, pp. 20-32
-
-
Stonebraker, J.S.1
Bolton-Maggs, P.H.B.2
Soucie, J.M.3
Walker, I.4
Brooker, M.5
-
16
-
-
85032379432
-
Hemofilia: Terapéutica en las alteraciones hemostáticas
-
Cortés Buelvas A. Hemofilia: terapéutica en las alteraciones hemostáticas. Colomb Med. 1999;30:10.
-
(1999)
Colomb Med
, vol.30
, pp. 10
-
-
Cortés, B.A.1
-
17
-
-
0027220825
-
Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII
-
1:STN:280:DyaK3szivFCksA%3D%3D 8336172
-
Capra R, Mattioli F, Kalman B, Marcianò N, Berenzi A, Benetti A. Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII. J Neurol. 1993;240:336-8.
-
(1993)
J Neurol
, vol.240
, pp. 336-338
-
-
Capra, R.1
Mattioli, F.2
Kalman, B.3
Marcianò, N.4
Berenzi, A.5
Benetti, A.6
-
19
-
-
84930912633
-
Geographical distribution of myasthenia gravis in northern Europe-results from a population-based study from two countries
-
26068011
-
Boldingh MI, Maniaol AH, Brunborg C, Dekker L, Heldal AT, Lipka AF, et al. Geographical distribution of myasthenia gravis in northern Europe-results from a population-based study from two countries. Neuroepidemiology. 2015;44:221-31.
-
(2015)
Neuroepidemiology
, vol.44
, pp. 221-231
-
-
Boldingh, M.I.1
Maniaol, A.H.2
Brunborg, C.3
Dekker, L.4
Heldal, A.T.5
Lipka, A.F.6
-
20
-
-
0036627026
-
Prevalence of myasthenia gravis in Antioquia, Colombia
-
Sánchez JL, Uribe CS, Franco AF, Jiménez ME, Arcos-Burgos OM, Palacio LG. [Prevalence of myasthenia gravis in Antioquia, Colombia]. Rev Neurol. 34:1010-2.
-
Rev Neurol
, vol.34
, pp. 1010-1012
-
-
Sánchez, J.L.1
Uribe, C.S.2
Franco, A.F.3
Jiménez, M.E.4
Arcos-Burgos, O.M.5
Palacio, L.G.6
-
21
-
-
84899445465
-
A population based registry as a source of health indicators for rare diseases: The 10-year experience of the Veneto Region's rare diseases registry
-
24646171 4000007
-
Mazzucato M, Visonà Dalla Pozza L, Manea S, Minichiello C, Facchin P. A population based registry as a source of health indicators for rare diseases: the 10-year experience of the Veneto Region's rare diseases registry. Orphanet J Rare Dis. 2014;9:37.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 37
-
-
Mazzucato, M.1
Visonà Dalla Pozza, L.2
Manea, S.3
Minichiello, C.4
Facchin, P.5
-
22
-
-
85021706667
-
The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort
-
27657686
-
Walker CE, Mahede T, Davis G, Miller LJ, Girschik J, Brameld K, Sun W, Rath A, Aymé S, Zubrick SR, Baynam GS, Molster C, Dawkins HJS, Weeramanthri TS. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017;19:546-52.
-
(2017)
Genet Med
, vol.19
, pp. 546-552
-
-
Walker, C.E.1
Mahede, T.2
Davis, G.3
Miller, L.J.4
Girschik, J.5
Brameld, K.6
Sun, W.7
Rath, A.8
Aymé, S.9
Zubrick, S.R.10
Baynam, G.S.11
Molster, C.12
Dawkins, H.J.S.13
Weeramanthri, T.S.14
-
23
-
-
84897362189
-
European recommendations for primary prevention of congenital anomalies: A joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans
-
Taruscio D, Arriola L, Baldi F, Barisic I, Bermejo-Sánchez E, Bianchi F, et al. European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans. Public Health Genom. 2014;17:115-23.
-
(2014)
Public Health Genom
, vol.17
, pp. 115-123
-
-
Taruscio, D.1
Arriola, L.2
Baldi, F.3
Barisic, I.4
Bermejo-Sánchez, E.5
Bianchi, F.6
-
24
-
-
84926462524
-
Rare diseases in ICD11: Making rare diseases visible in health information systems through appropriate coding
-
25887186 4377208
-
Aymé S, Bellet B, Rath A. Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. Orphanet J Rare Dis. 2015;10:35.
-
(2015)
Orphanet J Rare Dis
, vol.10
, pp. 35
-
-
Aymé, S.1
Bellet, B.2
Rath, A.3
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