Works in Orphanet Journal of Rare Diseases, 2016, Vol 11

Results: 178

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Published in:

2016

By:

Siddiq, Shabnaz;
Wilson, Brenda J;
Graham, Ian D;
Lamoureux, Monica;
Khangura, Sara D;
Tingley, Kylie;
Tessier, Laure;
Chakraborty, Pranesh;
Coyle, Doug;
Dyack, Sarah;
Gillis, Jane;
Greenberg, Cheryl;
Hayeems, Robin Z;
Jain-Ghai, Shailly;
Kronick, Jonathan B;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J;
Prasad, Chitra;
Siriwardena, Komudi

Publication type:

journal article

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

Published in:

2016

By:

Merrill, Steven T.;
Nelson, Gary R.;
Longo, Nicola;
Bonkowsky, Joshua L.

Publication type:

Case Study

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0548-2

By:

Siddiq, Shabnaz;
Wilson, Brenda J.;
Graham, Ian D.;
Lamoureux, Monica;
Khangura, Sara D.;
Tingley, Kylie;
Tessier, Laure;
Chakraborty, Pranesh;
Coyle, Doug;
Dyack, Sarah;
Gillis, Jane;
Greenberg, Cheryl;
Hayeems, Robin Z.;
Jain-Ghai, Shailly;
Kronick, Jonathan B.;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J.;
Prasad, Chitra;
Siriwardena, Komudi

Publication type:

Article

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0542-8

By:

Finetti, Martina;
Omenetti, Alessia;
Federici, Silvia;
Caorsi, Roberta;
Gattorno, Marco

Publication type:

Article

Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0529-5

By:

Vivanti, Alexandre J.;
Cordier, Anne-Gael;
Baujat, Geneviève;
Benachi, Alexandra

Publication type:

Article

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.

Published in:

2016

By:

Pacheco, Yves;
Calender, Alain;
Israël-Biet, Dominique;
Roy, Pascal;
Lebecque, Serge;
Cottin, Vincent;
Bouvry, Diane;
Nunes, Hilario;
Sève, Pascal;
Pérard, Laurent;
Devouassoux, Gilles;
Freymond, Nathalie;
Khouatra, Chahira;
Wallaert, Benoît;
Lamy, Raphaelle;
Elsensohn, Mad-Hélénie;
Bardel, Claire;
Valeyre, Dominique;
GSF group

Publication type:

journal article

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0546-4

By:

Pacheco, Yves;
Calender, Alain;
Israël-Biet, Dominique;
Roy, Pascal;
Lebecque, Serge;
Cottin, Vincent;
Bouvry, Diane;
Nunes, Hilario;
Sève, Pascal;
Pérard, Laurent;
Devouassoux, Gilles;
Freymond, Nathalie;
Khouatra, Chahira;
Wallaert, Benoît;
Lamy, Raphaelle;
Elsensohn, Mad-Hélénie;
Bardel, Claire;
Valeyre, Dominique

Publication type:

Article

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Published in:

2016

By:

Walkley, Steven U;
Davidson, Cristin D;
Jacoby, Jonathan;
Marella, Philip D;
Ottinger, Elizabeth A;
Austin, Christopher P;
Porter, Forbes D;
Vite, Charles H;
Ory, Daniel S

Publication type:

Letter

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0547-3

By:

Salomon-Estebanez, Maria;
Flanagan, Sarah E.;
Ellard, Sian;
Rigby, Lindsey;
Bowden, Louise;
Mohamed, Zainab;
Nicholson, Jacqueline;
Skae, Mars;
Hall, Caroline;
Craigie, Ross;
Padidela, Raja;
Murphy, Nuala;
Randell, Tabitha;
Cosgrove, Karen E.;
Dunne, Mark J.;
Banerjee, Indraneel

Publication type:

Article

Aspartylglycosaminuria: a review.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0544-6

By:

Arvio, Maria;
Mononen, Ilkka

Publication type:

Article

Fostering collaborative research for rare genetic disease: the example of niemannpick type C disease.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0540-x

By:

Walkley, Steven U.;
Davidson, Cristin D.;
Jacoby, Jonathan;
Marella, Philip D.;
Ottinger, Elizabeth A.;
Austin, Christopher P.;
Porter, Forbes D.;
Vite, Charles H.;
Ory, Daniel S.

Publication type:

Article

Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0539-3

By:

Janoudi, Ghayath;
Amegatse, William;
McIntosh, Brendan;
Sehgal, Chander;
Richter, Trevor

Publication type:

Article

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0538-4

By:

Forestier-Zhang, Lydia;
Watts, Laura;
Turner, Alison;
Teare, Harriet;
Kaye, Jane;
Barrett, Joe;
Cooper, Cyrus;
Eastell, Richard;
Wordsworth, Paul;
Javaid, Muhammad K.;
Pinedo-Villanueva, Rafael

Publication type:

Article

An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0537-5

By:

Woodward, Len;
Johnson, Sally;
Walle, Johan Vande;
Beck, Joran;
Gasteyger, Christoph;
Licht, Christoph;
Ariceta, Gema

Publication type:

Article

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0545-5

By:

Ehrhart, Friederike;
Coort, Susan L. M.;
Cirillo, Elisa;
Smeets, Eric;
Evelo, Chris T.;
Curfs, Leopold M. G.

Publication type:

Article

20-year follow-up study of Danish HHT patients-survival and causes of death.

Published in:

2016

By:

Kjeldsen, Anette;
Aagaard, Katrine Saldern;
Tørring, Pernille Mathiesen;
Möller, Sören;
Green, Anders

Publication type:

journal article

Symmetrical acrokeratoderma: a case series in Indian patients.

Published in:

2016

By:

Vinay, Keshavamurthy;
Sawatkar, Gitesh U.;
Saikia, Uma N.;
Dogra, Sunil

Publication type:

Case Study

20-year follow-up study of Danish HHT patients--survival and causes of death.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0533-9

By:

Kjeldsen, Anette;
Aagaard, Katrine Saldern;
Tørring, Pernille Mathiesen;
Möller, Sören;
Green, Anders

Publication type:

Article

An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry.

Published in:

2016

By:

Woodward, Len;
Johnson, Sally;
Walle, Johan Vande;
Beck, Joran;
Gasteyger, Christoph;
Licht, Christoph;
Ariceta, Gema;
aHUS Registry SAB

Publication type:

journal article

Ataxia telangiectasia: a review.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0543-7

By:

Rothblum-Oviatt, Cynthia;
Wright, Jennifer;
Lefton-Greif, Maureen A.;
McGrath-Morrow, Sharon A.;
Crawford, Thomas O.;
Lederman, Howard M.

Publication type:

Article

Current models of care for disorders of sex development - results from an International survey of specialist centres.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0534-8

By:

Kyriakou, Andreas;
Dessens, Arianne;
Bryce, Jillian;
Iotova, Violeta;
Juul, Anders;
Krawczynski, Maciej;
Nordenskjöld, Agneta;
Rozas, Marta;
Sanders, Caroline;
Hiort, Olaf;
Ahmed, S. Faisal

Publication type:

Article

Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS): a systematic literature review.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0536-6

By:

Wagner, Anke;
Brucker, Sara Yvonne;
Ueding, Esther;
Gröber-Grätz, Dagmar;
Simoes, Elisabeth;
Rall, Katharina;
Kronenthaler, Andrea;
Schäffeler, Norbert;
Rieger, Monika A.

Publication type:

Article

Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0535-7

By:

Kuppens, R. J.;
Mahabier, E. F.;
Bakker, N. E.;
Siemensma, E. P. C.;
Donze, S. H.;
Hokken-Koelega, A. C. S.

Publication type:

Article

Insights into rare diseases from social media surveys.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0532-x

By:

Davies, William

Publication type:

Article

The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseases.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0528-6

By:

Javaid, M. K.;
Forestier-Zhang, L.;
Watts, L.;
Turner, A.;
Ponte, C.;
Teare, H.;
Gray, D.;
Gray, N.;
Popert, R.;
Hogg, J.;
Barrett, J.;
Pinedo-Villanueva, R.;
Cooper, C.;
Eastell, R.;
Bishop, N.;
Luqmani, R.;
Wordsworth, P.;
Kaye, J.

Publication type:

Article

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.

Published in:

2016

By:

Couce, María L.;
Vitoria, Isidro;
Aldámiz-Echevarría, Luís;
Fernández-Marmiesse, Ana;
Roca, Iria;
Llarena, Marta;
Sánchez-Pintos, Paula;
Leis, Rosaura;
Hermida, Alvaro

Publication type:

journal article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Published in:

2016

By:

Morimoto, Marie;
Myung, Clara;
Beirnes, Kimberly;
Choi, Kunho;
Asakura, Yumi;
Bokenkamp, Arend;
Bonneau, Dominique;
Brugnara, Milena;
Charrow, Joel;
Colin, Estelle;
Davis, Amira;
Deschenes, Georges;
Gentile, Mattia;
Giordano, Mario;
Gormley, Andrew K;
Govender, Rajeshree;
Joseph, Mark;
Keller, Kory;
Lerut, Evelyne;
Levtchenko, Elena

Publication type:

journal article

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Published in:

2016

By:

Alfadhel, Majid;
Benmeakel, Mohammed;
Arif Hossain, Mohammad;
Al Mutairi, Fuad;
Al Othaim, Ali;
Alfares, Ahmed A.;
Al Balwi, Mohammed;
Alzaben, Abdullah;
Eyaid, Wafaa;
Hossain, Mohammad Arif

Publication type:

journal article

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

Published in:

2016

By:

Sergouniotis, Panagiotis I.;
Barton, Stephanie J.;
Waller, Sarah;
Perveen, Rahat;
Ellingford, Jamie M.;
Campbell, Christopher;
Hall, Georgina;
Gillespie, Rachel L.;
Bhaskar, Sanjeev S.;
Ramsden, Simon C.;
Black, Graeme C.;
Lovell, Simon C.

Publication type:

journal article

Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study.

Published in:

2016

By:

Hugon-Rodin, Justine;
Lebègue, Géraldine;
Becourt, Stéphanie;
Hamonet, Claude;
Gompel, Anne

Publication type:

journal article

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0524-x

By:

Naoki Suzuki;
Madoka Mori-Yoshimura;
Satoshi Yamashita;
Satoshi Nakano;
Ken-ya Murata;
Yukie Inamori;
Naoko Matsui;
En Kimura;
Hirofumi Kusaka;
Tomoyoshi Kondo;
Itsuro Higuchi;
Ryuji Kaji;
Maki Tateyama;
Rumiko Izumi;
Hiroya Ono;
Masaaki Kato;
Hitoshi Warita;
Toshiaki Takahashi;
Ichizo Nishino;
Masashi Aoki

Publication type:

Article

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0513-0

By:

Husson, Marie-Caroline;
Schiff, Manuel;
Fouilhoux, Alain;
Cano, Aline;
Dobbelaere, Dries;
Brassier, Anais;
Mention, Karine;
Arnoux, Jean-Baptiste;
Feillet, François;
Chabrol, Brigitte;
Guffon, Nathalie;
Elie, Caroline;
de Lonlay, Pascale

Publication type:

Article

Gene expression profiles and protein-protein interaction networks in amyotrophic lateral sclerosis patients with C9orf72 mutation.

Published in:

2016

By:

Kotni, Meena Kumari;
Zhao, Mingzhu;
Wei, Dong-Qing

Publication type:

journal article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immunoosseous dysplasia?

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0519-7

By:

Morimoto, Marie;
Myung, Clara;
Beirnes, Kimberly;
Kunho Choi;
Yumi Asakura;
Bokenkamp, Arend;
Bonneau, Dominique;
Brugnara, Milena;
Charrow, Joel;
Colin, Estelle;
Davis, Amira;
Deschenes, Georges;
Gentile, Mattia;
Giordano, Mario;
Gormley, Andrew K.;
Govender, Rajeshree;
Joseph, Mark;
Keller, Kory;
Lerut, Evelyne;
Levtchenko, Elena

Publication type:

Article

Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective study.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0530-z

By:

Samueli, Sharon;
Abraham, Klaus;
Dressler, Anastasia;
Gröppel, Gudrun;
Mühlebner-Fahrngruber, Angelika;
Scholl, Theresa;
Kasprian, Gregor;
Laccone, Franco;
Feucht, Martha

Publication type:

Article

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Published in:: 2016
Publication type:: Correction Notice

8th European Conference on Rare Diseases & Orphan Products (ECRD 2016).

Published in:: 2016
Publication type:: Abstract

Off-label use of orphan medicinal products: a Belgian qualitative study.

Published in:

2016

By:

Dooms, Marc;
Cassiman, David;
Simoens, Steven

Publication type:

journal article

Off-label use of orphan medicinal products: a Belgian qualitative study.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0507-y

By:

Dooms, Marc;
Cassiman, David;
Simoens, Steven

Publication type:

Article

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0527-7

By:

Baldo, Chiara;
Casareto, Lorena;
Renieri, Alessandra;
Merla, Giuseppe;
Garavaglia, Barbara;
Goldwurm, Stefano;
Pegoraro, Elena;
Moggio, Maurizio;
Mora, Marina;
Politano, Luisa;
Sangiorgi, Luca;
Mazzotti, Raffaella;
Viotti, Valeria;
Meloni, Ilaria;
Pellico, Maria Teresa;
Barzaghi, Chiara;
Wang, Chiuhui Mary;
Monaco, Lucia;
Filocamo, Mirella

Publication type:

Article

Childhood-onset granulomatosis with polyangiitis and microscopic polyangiitis: systematic review and meta-analysis.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0523-y

By:

Iudici, Michele;
Quartier, Pierre;
Terrier, Benjamin;
Mouthon, Luc;
Guillevin, Loïc;
Puéchal, Xavier

Publication type:

Article

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.

Published in:

2016

By:

Lühl, S;
Bode, H;
Schlötzer, W;
Bartsakoulia, M;
Horvath, R;
Abicht, A;
Stenzel, M;
Kirschner, J;
Grünert, S C

Publication type:

journal article

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0526-8

By:

Akawi, Nadia A.;
Ben-Salem, Salma;
Hertecant, Jozef;
John, Anne;
Pramathan, Thachillath;
Kizhakkedath, Praseetha;
Ali, Bassam R.;
Al-Gazali, Lihadh

Publication type:

Article

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0525-9

By:

Lühl, S.;
Bode, H.;
Schlötzer, W.;
Bartsakoulia, M.;
Horvath, R.;
Abicht, A.;
Stenzel, M.;
Kirschner, J.;
Grünert, S. C.

Publication type:

Article

Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0521-0

By:

Somanadhan, S.;
Larkin, P. J.

Publication type:

Article

DNA ligase IV syndrome; a review.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0520-1

By:

Altmann, Thomas;
Gennery, Andrew R.

Publication type:

Article

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0514-z

By:

Colombo, Elisa Adele;
Spaccini, Luigina;
Volpi, Ludovica;
Negri, Gloria;
Cittaro, Davide;
Lazarevic, Dejan;
Zirpoli, Salvatore;
Farolfi, Andrea;
Gervasini, Cristina;
Cubellis, Maria Vittoria;
Larizza, Lidia

Publication type:

Article

The risks of overlooking the diagnosis of secreting pituitary adenomas.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0516-x

By:

Brue, Thierry;
Castinetti, Frederic

Publication type:

Article

Combined integrated protocol/basket trial design for a first-in-human trial.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0494-z

By:

Derhaschnig, Ulla;
Gilbert, Jim;
Jäger, Ulrich;
Böhmig, Georg;
Stingl, Georg;
Jilma, Bernd

Publication type:

Article

High attack frequency in patients with angioedema due to C1-inhibitor deficiency is a major determinant in switching to home therapy: a real-life observational study.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0518-8

By:

Squeglia, Veronica;
Barbarino, Alessandro;
Bova, Maria;
Gravante, Carmela;
Petraroli, Angelica;
Spadaro, Giuseppe;
Triggiani, Massimo;
Genovese, Arturo;
Marone, Gianni

Publication type:

Article