Works matching IS 17501172 AND DT 2011 AND VI 6 AND IP 1

Results: 123

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).

Published in:

2011

By:

Valstar, Marlies J;
Marchal, Jan Pieter;
Grootenhuis, Martha;
Colland, Vivian;
Wijburg, Frits A

Publication type:

journal article

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

Published in:

2011

By:

Mégarbané, Hala;
Mégarbané, André

Publication type:

journal article

Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006).

Published in:

2011

By:

Masocco, Maria;
Kodra, Yllka;
Vichi, Monica;
Conti, Susanna;
Kanieff, Mark;
Pace, Monica;
Frova, Luisa;
Taruscio, Domenica

Publication type:

journal article

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Published in:

2011

By:

Mahmood, Saqib;
Ahmad, Wasim;
Hassan, Muhammad J

Publication type:

journal article

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.

Published in:

2011

By:

Ten Hoedt, Amber E;
Hollak, Carla Em;
Boelen, Carolien Ca;
van der Herberg-van de Wetering, N Ada P;
Ter Horst, Nienke M;
Jonkers, Cora F;
Wijburg, Frits A;
Bosch, Annet M

Publication type:

journal article

Genome-wide analysis of Ollier disease: Is it all in the genes?

Published in:

2011

By:

Pansuriya, Twinkal C;
Oosting, Jan;
Krenács, Tibor;
Taminiau, Antonie Hm;
Verdegaal, Suzan Hm;
Sangiorgi, Luca;
Sciot, Raf;
Hogendoorn, Pancras Cw;
Szuhai, Karoly;
Bovée, Judith Vmg;
Taminiau, Antonie H M;
Verdegaal, Suzan H M;
Hogendoorn, Pancras C W;
Bovée, Judith V M G

Publication type:

journal article

Machado-Joseph Disease: from first descriptions to new perspectives.

Published in:

2011

By:

Bettencourt, Conceiçao;
Lima, Manuela;
Bettencourt, Conceição

Publication type:

journal article

Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema.

Published in:

2011

By:

Blanco, Ignacio;
Lara, Beatriz;
de Serres, Frederick

Publication type:

journal article

Xeroderma pigmentosum.

Published in:

2011

By:

Lehmann, Alan R;
McGibbon, David;
Stefanini, Miria

Publication type:

journal article

Pricing and reimbursement of orphan drugs: the need for more transparency.

Published in:

2011

By:

Simoens, Steven

Publication type:

journal article

Neuroacanthocytosis syndromes.

Published in:

2011

By:

Jung, Hans H;
Danek, Adrian;
Walker, Ruth H

Publication type:

journal article

Epithelial thymic tumours in paediatric age: a report from the TREP project.

Published in:

2011

By:

Carretto, Elena;
Inserra, Alessandro;
Ferrari, Andrea;
Conte, Massimo;
Di Cataldo, Andrea;
Migliorati, Roberta;
Cecchetto, Giovanni;
Bisogno, Gianni

Publication type:

journal article

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

Published in:

2011

By:

Scarpa, Maurizio;
Almássy, Zsuzsanna;
Beck, Michael;
Bodamer, Olaf;
Bruce, Iain A;
De Meirleir, Linda;
Guffon, Nathalie;
Guillén-Navarro, Encarna;
Hensman, Pauline;
Jones, Simon;
Kamin, Wolfgang;
Kampmann, Christoph;
Lampe, Christina;
Lavery, Christine A;
Leao Teles, Elisa;
Link, Bianca;
Lund, Allan M;
Malm, Gunilla;
Pitz, Susanne;
Rothera, Michael

Publication type:

journal article

Glucose-6-phosphatase deficiency.

Published in:

2011

By:

Froissart, Roseline;
Piraud, Monique;
Boudjemline, Alix Mollet;
Vianey-Saban, Christine;
Petit, François;
Hubert-Buron, Aurélie;
Eberschweiler, Pascale Trioche;
Gajdos, Vincent;
Labrune, Philippe

Publication type:

journal article

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders.

Published in:

2011

By:

Hollak, Carla Em;
Aerts, Johannes Mfg;
Aymé, Ségolène;
Manuel, Jeremy;
Hollak, Carla E M;
Aerts, Johannes M F G

Publication type:

journal article

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Published in:

2011

By:

Garcia-Garcia, Gema;
Aparisi, Maria J;
Jaijo, Teresa;
Rodrigo, Regina;
Leon, Ana M;
Avila-Fernandez, Almudena;
Blanco-Kelly, Fiona;
Bernal, Sara;
Navarro, Rafael;
Diaz-Llopis, Manuel;
Baiget, Montserrat;
Ayuso, Carmen;
Millan, Jose M;
Aller, Elena

Publication type:

journal article

Does market exclusivity hinder the development of Follow-on Orphan Medicinal Products in Europe?

Published in:

2011

By:

Brabers, Anne E M;
Moors, Ellen H M;
van Weely, Sonja;
de Vrueh, Remco L A

Publication type:

journal article

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 87, doi. 10.1186/1750-1172-6-87
Publication type:: Article

Atypical hemolytic uremic syndrome.

Published in:

2011

By:

Loirat, Chantal;
Frémeaux-Bacchi, Véronique

Publication type:

journal article

Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 84, doi. 10.1186/1750-1172-6-84
Publication type:: Article

Estimating the budget impact of orphan medicines in Europe: 2010 - 2020.

Published in:

2011

By:

Schey, Carina;
Milanova, Tsveta;
Hutchings, Adam

Publication type:

journal article

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Published in:

2011

By:

Punzo, Francesca;
Bertoli-Avella, Aida M;
Scianguetta, Saverio;
Della Ragione, Fulvio;
Casale, Maddalena;
Ronzoni, Luisa;
Cappellini, Maria D;
Forni, Gianluca;
Oostra, Ben A;
Perrotta, Silverio

Publication type:

journal article

Type 1 autoimmune pancreatitis.

Published in:

2011

By:

Zen, Yoh;
Bogdanos, Dimitrios P;
Kawa, Shigeyuki

Publication type:

journal article

Congenital hyperinsulinism: current trends in diagnosis and therapy.

Published in:

2011

By:

Arnoux, Jean-Baptiste;
Verkarre, Virginie;
Saint-Martin, Cécile;
Montravers, Françoise;
Brassier, Anaïs;
Valayannopoulos, Vassili;
Brunelle, Francis;
Fournet, Jean-Christophe;
Robert, Jean-Jacques;
Aigrain, Yves;
Bellanné-Chantelot, Christine;
de Lonlay, Pascale

Publication type:

journal article

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.

Published in:

2011

By:

Okada, Tomoo;
Miyashita, Michio;
Fukuhara, Junji;
Sugitani, Masahiko;
Ueno, Takahiro;
Samson-Bouma, Marie-Elisabeth;
Aggerbeck, Lawrence P

Publication type:

journal article

Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study.

Published in:

2011

By:

Ng Wing Tin, Sophie;
Martin-Duverneuil, Nadine;
Idbaih, Ahmed;
Garel, Catherine;
Ribeiro, Maria;
Parker, Judith Landman;
Defachelles, Anne-Sophie;
Lambilliotte, Anne;
Barkaoui, Mohamed;
Munzer, Martine;
Gardembas, Martine;
Sibilia, Jean;
Lutz, Patrick;
Fior, Renato;
Polak, Michel;
Robert, Alain;
Aumaitre, Olivier;
Plantaz, Dominique;
Armari-Alla, Corinne;
Genereau, Thierry

Publication type:

journal article

Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 83, doi. 10.1186/1750-1172-6-83
Publication type:: Article

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 78, doi. 10.1186/1750-1172-6-78
Publication type:: Article

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

Published in:

2011

By:

Swinnen, Freya K R;
Coucke, Paul J;
De Paepe, Anne M;
Symoens, Sofie;
Malfait, Fransiska;
Gentile, Filomena V;
Sangiorgi, Luca;
D'Eufemia, Patrizia;
Celli, Mauro;
Garretsen, Ton J T M;
Cremers, Cor W R J;
Dhooge, Ingeborg J M;
De Leenheer, Els M R

Publication type:

journal article

Laryngo-tracheo-oesophageal clefts.

Published in:

2011

By:

Leboulanger, Nicolas;
Garabédian, Eréa-Noël

Publication type:

journal article

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients.

Published in:

2011

By:

Bouazza, Naïm;
Tréluyer, Jean-Marc;
Ottolenghi, Chris;
Urien, Saik;
Deschenes, Georges;
Ricquier, Daniel;
Niaudet, Patrick;
Chadefaux-Vekemans, Bernadette

Publication type:

journal article

Fibrodysplasia ossificans progressiva: clinical and genetic aspects.

Published in:

2011

By:

Pignolo, Robert J;
Shore, Eileen M;
Kaplan, Frederick S

Publication type:

journal article

A rare bladder cancer--small cell carcinoma: review and update.

Published in:

2011

By:

Ismaili, Nabil

Publication type:

journal article

Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementation.

Published in:

2011

By:

Veenhuizen, Ruth B;
Kootstra, Branda;
Vink, Wilma;
Posthumus, Janneke;
van Bekkum, Pleuntje;
Zijlstra, Margriet;
Dokter, Jelleke

Publication type:

journal article

Spinal muscular atrophy.

Published in:

2011

By:

D'Amico, Adele;
Mercuri, Eugenio;
Tiziano, Francesco D;
Bertini, Enrico

Publication type:

journal article

The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.

Published in:

2011

By:

Szczawinska-Poplonyk, Aleksandra;
Kycler, Zdzislawa;
Pietrucha, Barbara;
Heropolitanska-Pliszka, Edyta;
Breborowicz, Anna;
Gerreth, Karolina

Publication type:

journal article

Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code.

Published in:

2011

By:

Houyel, Lucile;
Khoshnood, Babak;
Anderson, Robert H;
Lelong, Nathalie;
Thieulin, Anne-Claire;
Goffinet, François;
Bonnet, Damien;
EPICARD Study group

Publication type:

journal article

Laryngo-tracheo-oesophageal clefts.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 81, doi. 10.1186/1750-1172-6-81
Publication type:: Article

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 89, doi. 10.1186/1750-1172-6-89
Publication type:: Article

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 85, doi. 10.1186/1750-1172-6-85
Publication type:: Article

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 88, doi. 10.1186/1750-1172-6-88
Publication type:: Article

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 86, doi. 10.1186/1750-1172-6-86
Publication type:: Article

Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 80, doi. 10.1186/1750-1172-6-80
Publication type:: Article

Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 67, doi. 10.1186/1750-1172-6-67
Publication type:: Article

Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementation.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 77, doi. 10.1186/1750-1172-6-77
Publication type:: Article

A rare bladder cancer - small cell carcinoma: review and update.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 75, doi. 10.1186/1750-1172-6-75
Publication type:: Article

Type 1 autoimmune pancreatitis.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 82, doi. 10.1186/1750-1172-6-82
Publication type:: Article

Benefits, challenges and obstacles of adaptive clinical trial designs.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 79, doi. 10.1186/1750-1172-6-79
Publication type:: Article

Spinal muscular atrophy.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 71, doi. 10.1186/1750-1172-6-71
Publication type:: Article

The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency.

Published in:: Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 76, doi. 10.1186/1750-1172-6-76
Publication type:: Article