Works matching IS 17501172 AND DT 2015 AND VI 10 AND IP 1

Results: 251

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

Published in:

2015

By:

Cassis, Linda;
Cortès-Saladelafont, Elisenda;
Molero-Luis, Marta;
Yubero, Delia;
González, Maria Julieta;
Herrero, Aida Ormazabal;
Fons, Carme;
Jou, Cristina;
Sierra, Cristina;
Ponce, Esperanza Castejon;
Ramos, Federico;
Armstrong, Judith;
Mar O'Callaghan, M.;
Casado, Mercedes;
Montero, Raquel;
Meavilla Olivas, Silvia Maria;
Artuch, Rafael;
Barić, Ivo;
Bartoloni, Franco;
Bellettato, Cinzia Maria

Publication type:

journal article

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.

Published in:

2015

By:

Boy, Nikolas;
Heringer, Jana;
Haege, Gisela;
Glahn, Esther M.;
Hoffmann, Georg F.;
Garbade, Sven F.;
Kölker, Stefan;
Burgard, Peter

Publication type:

journal article

Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile.

Published in:

2015

By:

Pena, Maria João;
Almeida, Manuela Ferreira;
van Dam, Esther;
Ahring, Kirsten;
Bélanger-Quintana, Amaya;
Dokoupil, Katharina;
Gokmen-Ozel, Hulya;
Lammardo, Anna Maria;
MacDonald, Anita;
Robert, Martine;
Rocha, Júlio César

Publication type:

journal article

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat.

Published in:

2015

By:

Abel, Larry A.;
Walterfang, Mark;
Stainer, Matthew J.;
Bowman, Elizabeth A.;
Velakoulis, Dennis

Publication type:

journal article

Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.

Published in:

2015

By:

Komarow, Hirsh D.;
Sokolic, Robert;
Hershfield, Michael S.;
Kohn, Donald B.;
Young, Michael;
Metcalfe, Dean D.;
Candotti, Fabio

Publication type:

Letter

Rare diseases and orphan drugs: 500 years ago.

Published in:

2015

By:

Dooms, Marc M.

Publication type:

Biography

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Published in:

2015

By:

Jeannesson-Thivisol, Elise;
Feillet, François;
Chéry, Céline;
Perrin, Pascal;
Battaglia-Hsu, Shyue-Fang;
Herbeth, Bernard;
Cano, Aline;
Barth, Magalie;
Fouilhoux, Alain;
Mention, Karine;
Labarthe, François;
Arnoux, Jean-Baptiste;
Maillot, François;
Lenaerts, Catherine;
Dumesnil, Cécile;
Wagner, Kathy;
Terral, Daniel;
Broué, Pierre;
de Parscau, Loïc;
Gay, Claire

Publication type:

journal article

Zellweger spectrum disorders: clinical overview and management approach.

Published in:

2015

By:

Klouwer, Femke C. C.;
Berendse, Kevin;
Ferdinandusse, Sacha;
Wanders, Ronald J. A.;
Engelen, Marc;
Poll-The, Bwee Tien

Publication type:

journal article

Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency.

Published in:

2015

By:

Veszeli, Nóra;
Csuka, Dorottya;
Zotter, Zsuzsanna;
Imreh, Éva;
Józsi, Mihály;
Benedek, Szabolcs;
Varga, Lilian;
Farkas, Henriette

Publication type:

journal article

Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study.

Published in:

2015

By:

Pommerening, H.;
van Dullemen, S.;
Kieslich, M.;
Schubert, R.;
Zielen, S.;
Voss, S.

Publication type:

journal article

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.

Published in:

2015

By:

Vignoli, Aglaia;
La Briola, Francesca;
Peron, Angela;
Turner, Katherine;
Vannicola, Chiara;
Saccani, Monica;
Magnaghi, Elisabetta;
Scornavacca, Giulia Federica;
Canevini, Maria Paola

Publication type:

journal article

Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

Published in:

2015

By:

Groth, Kristian A.;
Hove, Hanne;
Kyhl, Kasper;
Folkestad, Lars;
Gaustadnes, Mette;
Vejlstrup, Niels;
Stochholm, Kirstine;
Østergaard, John R.;
Andersen, Niels H.;
Gravholt, Claus H.

Publication type:

journal article

Novel grading system for quantification of cystic macular lesions in Usher syndrome.

Published in:

2015

By:

Sliesoraityte, Ieva;
Peto, Tunde;
Mohand-Said, Saddek;
Sahel, Jose Alain

Publication type:

journal article

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Published in:

2015

By:

Hsiang-Yu Lin;
Chih-Kuang Chuang.;
Yi-Ning Su;
Ming-Ren Chen;
Hui-Chin Chiu;
Dau-Ming Niu;
Shuan-Pei Lin;
Lin, Hsiang-Yu;
Chuang, Chih-Kuang;
Su, Yi-Ning;
Chen, Ming-Ren;
Chiu, Hui-Chin;
Niu, Dau-Ming;
Lin, Shuan-Pei

Publication type:

journal article

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers.

Published in:

2015

By:

Welters, Alena;
Lerch, Christian;
Kummer, Sebastian;
Marquard, Jan;
Salgin, Burak;
Mayatepek, Ertan;
Meissner, Thomas

Publication type:

journal article

A conceptual disease model for adult Pompe disease.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0334-6

By:

Kanters, Tim A.;
Redekop, W. Ken;
Rutten-Van Mölken, Maureen P. M. H.;
Kruijshaar, Michelle E.;
Güngör, Deniz;
van der Ploeg, Ans T.;
Hakkaart, Leona

Publication type:

Article

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease.

Published in:

2015

By:

Van Groenendael, Stephanie;
Giacovazzi, Luca;
Davison, Fabian;
Holtkemper, Oliver;
Zexin Huang;
Qiaoying Wang;
Parkinson, Kay;
Barrett, Timothy;
Geberhiwot, Tarekegn;
Huang, Zexin;
Wang, Qiaoying

Publication type:

journal article

The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis.

Published in:

2015

By:

Kondagari, Gauthami Sudhamayee;
Fletcher, Jessica Louise;
Cruz, Rachel;
Williamson, Peter;
Hopwood, John J.;
Taylor, Rosanne Maree

Publication type:

journal article

Focusing on rare diseases in China: are we there yet?

Published in:

2015

By:

Li Yang;
Chang Su;
Lee, Ashley M.;
Bai, Harrison X.;
Yang, Li;
Su, Chang

Publication type:

Letter

Initial report of the osteogenesis imperfecta adult natural history initiative.

Published in:

2015

By:

Tosi, Laura L.;
Oetgen, Matthew E.;
Floor, Marianne K.;
Huber, Mary Beth;
Kennelly, Ann M.;
McCarter, Robert J.;
Rak, Melanie F.;
Simmonds, Barbara J.;
Simpson, Melissa D.;
Tucker, Carole A.;
McKiernan, Fergus E.

Publication type:

journal article

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

Published in:

2015

By:

Porter, Louise F.;
Gallego-Pinazo, Roberto;
Keeling, Catherine L.;
Kamieniorz, Martyna;
Zoppi, Nicoletta;
Colombi, Marina;
Giunta, Cecilia;
Bonshek, Richard;
Manson, Forbes D.;
Black, Graeme C.

Publication type:

journal article

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

Published in:

2015

By:

Hsiang-Ru Liaw;
Hsiu-Fen Lee;
Ching-Shiang Chi;
Chi-Ren Tsai;
Liaw, Hsiang-Ru;
Lee, Hsiu-Fen;
Chi, Ching-Shiang;
Tsai, Chi-Ren

Publication type:

journal article

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Published in:

2015

By:

Todd, Emily J.;
Yau, Kyle S.;
Ong, Royston;
Slee, Jennie;
McGillivray, George;
Barnett, Christopher P.;
Haliloglu, Goknur;
Talim, Beril;
Akcoren, Zuhal;
Kariminejad, Ariana;
Cairns, Anita;
Clarke, Nigel F.;
Freckmann, Mary-Louise;
Romero, Norma B.;
Williams, Denise;
Sewry, Caroline A.;
Colley, Alison;
Ryan, Monique M.;
Kiraly-Borri, Cathy;
Sivadorai, Padma

Publication type:

journal article

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

Published in:

2015

By:

Jahic, Amir;
Khundadze, Mukhran;
Jaenisch, Nadine;
Schüle, Rebecca;
Klimpe, Sven;
Klebe, Stephan;
Frahm, Christiane;
Kassubek, Jan;
Stevanin, Giovanni;
Schöls, Ludger;
Brice, Alexis;
Hübner, Christian A.;
Beetz, Christian

Publication type:

journal article

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.

Published in:

2015

By:

Ellis, Anthony;
Risk, Janet M.;
Maruthappu, Thiviyani;
Kelsell, David P.

Publication type:

journal article

Compassionate use of orphan drugs.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0306-x

By:

Hyry, Hanna I.;
Manuel, Jeremy;
Cox, Timothy M.;
Roos, Jonathan C. P.

Publication type:

Article

Primary erythromelalgia: a review.

Published in:

2015

By:

Zhaoli Tang;
Zhao Chen;
Beisha Tang;
Hong Jiang;
Tang, Zhaoli;
Chen, Zhao;
Tang, Beisha;
Jiang, Hong

Publication type:

journal article

Immunosuppressive drugs and fertility.

Published in:

2015

By:

Leroy, Clara;
Rigot, Jean-Marc;
Leroy, Maryse;
Decanter, Christine;
Le Mapihan, Kristell;
Parent, Anne-Sophie;
Le Guillou, Anne-Claire;
Yakoub-Agha, Ibrahim;
Dharancy, Sébastien;
Noel, Christian;
Vantyghem, Marie-Christine

Publication type:

journal article

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Published in:

2015

By:

Al-Sannaa, Nouriya A.;
Bay, Luisa;
Barbouth, Deborah S.;
Benhayoun, Youssef;
Goizet, Cyril;
Guelbert, Norberto;
Jones, Simon A.;
Kyosen, Sandra Obikawa;
Martins, Ana Maria;
Phornphutkul, Chanika;
Reig, Celia;
Pleat, Rebecca;
Fallet, Shari;
Holder, Iva Ivanovska;
Ivanovska Holder, Iva

Publication type:

journal article

Review and comparison of clinical evidence submitted to support European Medicines Agency market authorization of orphan-designated oncological treatments.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0349-z

By:

Winstone, Julie;
Chadda, Shkun;
Ralston, Stephen;
Sajosi, Peter

Publication type:

Article

Mortality-related resource utilization in the inpatient care of hypoplastic left heart syndrome.

Published in:

2015

By:

Danford, David A.;
Karels, Quentin;
Kulkarni, Aparna;
Hussain, Aysha;
Yunbin Xiao;
Kutty, Shelby;
Xiao, Yunbin

Publication type:

journal article

Erratum to: Establishing medical plausibility in the context of orphan medicines designation in the European Union.

Published in:

2015

By:

Tsigkos, Stelios;
Mariz, Segundo;
Llinares, Jordi;
Fregonese, Laura;
Aarum, Stiina;
Naumann-Winter, Frauke;
Westermark, Kerstin;
Sepodes, Bruno

Publication type:

corrected article

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Published in:

2015

By:

Mercier, Sandra;
Küry, Sébastien;
Salort-Campana, Emmanuelle;
Magot, Armelle;
Agbim, Uchenna;
Besnard, Thomas;
Bodak, Nathalie;
Bou-Hanna, Chantal;
Bréhéret, Flora;
Brunelle, Perrine;
Caillon, Florence;
Chabrol, Brigitte;
Cormier-Daire, Valérie;
David, Albert;
Eymard, Bruno;
Faivre, Laurence;
Figarella-Branger, Dominique;
Fleurence, Emmanuelle;
Ganapathi, Mythily;
Gherardi, Romain

Publication type:

journal article

47 patients with FLNA associated periventricular nodular heterotopia.

Published in:

2015

By:

Lange, Max;
Kasper, Burkhard;
Bohring, Axel;
Rutsch, Frank;
Kluger, Gerhard;
Hoffjan, Sabine;
Spranger, Stephanie;
Behnecke, Anne;
Ferbert, Andreas;
Hahn, Andreas;
Oehl-Jaschkowitz, Barbara;
Graul-Neumann, Luitgard;
Diepold, Katharina;
Schreyer, Isolde;
Bernhard, Matthias K.;
Mueller, Franziska;
Siebers-Renelt, Ulrike;
Beleza-Meireles, Ana;
Uyanik, Goekhan;
Janssens, Sandra

Publication type:

journal article

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin.

Published in:

2015

By:

Palladino, Giampiero;
Loizzo, Stefano;
Fortuna, Andrea;
Canterini, Sonia;
Palombi, Fioretta;
Erickson, Robert P.;
Mangia, Franco;
Fiorenza, Maria Teresa

Publication type:

journal article

Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency.

Published in:

2015

By:

Csuka, Dorottya;
Veszeli, Nóra;
Imreh, Éva;
Zotter, Zsuzsanna;
Skopál, Judit;
Prohászka, Zoltán;
Varga, Lilian;
Farkas, Henriette

Publication type:

journal article

Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.

Published in:

2015

By:

Joly, Philippe;
Guillaud, Olivier;
Hervieu, Valérie;
Francina, Alain;
Mornex, Jean-François;
Cellier, Colette Chapuis;
Chapuis-Cellier, Colette

Publication type:

journal article

Friedreich ataxia in Norway - an epidemiological, molecular and clinical study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4

By:

Wedding, Iselin Marie;
Kroken, Mette;
Henriksen, Sandra Pilar;
Selmer, Kaja Kristine;
Fiskerstrand, Torunn;
Knappskog, Per Morten;
Berge, Tone;
Tallaksen, Chantal M. E.

Publication type:

Article

Unmet needs for healthcare and social support services in patients with Huntington's disease: a cross-sectional population-based study.

Published in:

2015

By:

van Walsem, Marleen R.;
Howe, Emilie I.;
Iversen, Kristin;
Frich, Jan C.;
Andelic, Nada

Publication type:

journal article

Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.

Published in:

2015

By:

Kampmann, Christoph;
Perrin, Amandine;
Beck, Michael

Publication type:

journal article

Meier-Gorlin syndrome.

Published in:

2015

By:

de Munnik, Sonja A.;
Hoefsloot, Elisabeth H.;
Roukema, Jolt;
Schoots, Jeroen;
Knoers, Nine V. A. M.;
Brunner, Han G.;
Jackson, Andrew P.;
Bongers, Ernie M. H. F.;
Knoers, Nine Vam;
Bongers, Ernie Mhf

Publication type:

journal article

Erratum to: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways.

Published in:

2015

By:

Cai, Wenping;
Jiang, Beizhan;
Feng, Tienan;
Xue, Jinfeng;
Yang, Jianhua;
Chen, Zhenghu;
Liu, Junjun;
Wei, Rongbin;
Zhao, Shouliang;
Wang, Xiaoping;
Liu, Shangfeng

Publication type:

corrected article

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Published in:

2015

By:

Atik, Tahir;
Koparir, Asuman;
Bademci, Guney;
Foster II, Joseph;
Altunoglu, Umut;
Mutlu, Gül Yesiltepe;
Bowdin, Sarah;
Elcioglu, Nursel;
Tayfun, Gulsen A.;
Atik, Sevinc Sahin;
Ozen, Mustafa;
Ozkinay, Ferda;
Alanay, Yasemin;
Kayserili, Hulya;
Thiel, Steffen;
Tekin, Mustafa;
Foster, Joseph 2nd

Publication type:

journal article

Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.

Published in:

2015

By:

Chihwa Kim;
Min Jung Kwak;
Sung Yoon Cho;
Ah-ra Ko;
Rheey, Jinguen;
Jeong-Yi Kwon;
Yokyung Chung;
Dong-Kyu Jin;
Kim, Chihwa;
Kwak, Min Jung;
Cho, Sung Yoon;
Ko, Ah-Ra;
Kwon, Jeong-Yi;
Chung, Yokyung;
Jin, Dong-Kyu

Publication type:

journal article

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Published in:

2015

By:

Panagiotakaki, Eleni;
De Grandis, Elisa;
Stagnaro, Michela;
Heinzen, Erin L.;
Fons, Carmen;
Sisodiya, Sanjay;
de Vries, Boukje;
Goubau, Christophe;
Weckhuysen, Sarah;
Kemlink, David;
Scheffer, Ingrid;
Lesca, Gaëtan;
Rabilloud, Muriel;
Klich, Amna;
Ramirez-Camacho, Alia;
Ulate-Campos, Adriana;
Campistol, Jaume;
Giannotta, Melania;
Moutard, Marie-Laure;
Doummar, Diane

Publication type:

journal article

Paediatric Chordomas.

Published in:

2015

By:

Beccaria, Kévin;
Sainte-Rose, Christian;
Zerah, Michel;
Puget, Stéphanie

Publication type:

journal article

Categorizing diffuse parenchymal lung disease in children.

Published in:

2015

By:

Griese, Matthias;
Irnstetter, Armin;
Hengst, Meike;
Burmester, Helen;
Nagel, Felicitas;
Ripper, Jan;
Feilcke, Maria;
Pawlita, Ingo;
Gothe, Florian;
Kappler, Matthias;
Schams, Andrea;
Wesselak, Traudl;
Rauch, Daniela;
Wittmann, Thomas;
Lohse, Peter;
Brasch, Frank;
Kröner, Carolin

Publication type:

journal article

Ichthyosis with confetti: clinics, molecular genetics and management.

Published in:

2015

By:

Guerra, Liliana;
Diociaiuti, Andrea;
El Hachem, May;
Castiglia, Daniele;
Zambruno, Giovanna

Publication type:

journal article

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Published in:

2015

By:

Maiorana, Arianna;
Manganozzi, Lucilla;
Barbetti, Fabrizio;
Bernabei, Silvia;
Gallo, Giorgia;
Cusmai, Raffaella;
Caviglia, Stefania;
Dionisi-Vici, Carlo

Publication type:

journal article

Self-administered version of the Fabry-associated pain questionnaire for adult patients.

Published in:

2015

By:

Magg, Barbara;
Riegler, Christoph;
Wiedmann, Silke;
Heuschmann, Peter;
Sommer, Claudia;
Üçeyler, Nurcan

Publication type:

journal article