Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

Research   Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects Guérard N, Morand O, Dingemanse JOrphanet Journal of Rare Diseases 2017, 12 :9 (14 January 2017) Abstract | Full Text | PDF Review   Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules Tanno L, Simons F, Annesi-Maesano I, Calderon M, Aymé S, Demoly P, on behalf of the Joint Allergy AcademiesOrphanet Journal of Rare Diseases 2017, 12 :8 (13 January 2017) Abstract | Full Text | PDF Research   Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome Chiong M, Canson D, Abacan M, Baluyot M, Cordero C, Silao COrphanet Journal of Rare Diseases 2017, 12 :7 (11 January 2017) Abstract | Full Text | PDF Review   FOXN1 deficient nude severe combined immunodeficiency Rota I, Dhalla FOrphanet Journal of Rare Diseases 2017, 12 :6 (11 January 2017) Abstract | Full Text | PDF Research   Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency Zotter Z, Nagy Z, Patócs A, Csuka D, Veszeli N, Kőhalmi K, Farkas HOrphanet Journal of Rare Diseases 2017, 12 :5 (10 January 2017) Abstract | Full Text | PDF Research   Moebius sequence –a multidisciplinary clinical approach Pedersen L, Maimburg R, Hertz J, Gjørup H, Pedersen T, Møller-Madsen B, Østergaard JOrphanet Journal of Rare Diseases 2017, 12 :4 (6 January 2017) Abstract | Full Text | PDF Research   Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont J, Ottolenghi C, de Blic J, Arnoux J, de Lonlay POrphanet Journal of Rare Diseases 2017, 12 :3 (5 January 2017) Abstract | Full Text | PDF Research   TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients Kingswood J, d’Augères G, Belousova E, Ferreira J, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries P, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson J, Macaya A, Nabbout R, O’Callaghan F, Benedik M, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, on behalf of TOSCA consortium and TOSCA investigatorsOrphanet Journal of Rare Diseases 2017, 12 :2 (5 January 2017) Abstract | Full Text | PDF Research   Ethical imperatives of timely access to orphan drugs: is possible to reconcile economic incentives and patients’ health needs? Rodriguez-Monguio R, Spargo T, Seoane-Vazquez EOrphanet Journal of Rare Diseases 2017, 12 :1 (5 January 2017) Abstract | Full Text | PDF Research   Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature Merrill S, Nelson G, Longo N, Bonkowsky JOrphanet Journal of Rare Diseases 2016, 11 :169 (7 December 2016) Abstract | Full Text | PDF Research   Experiences of caregivers of children with inherited metabolic diseases: a qualitative study Siddiq S, Wilson B, Graham I, Lamoureux M, Khangura S, Tingley K, Tessier L, Chakraborty P, Coyle D, Dyack S, Gillis J, Greenberg C, Hayeems R, Jain-Ghai S, Kronick J, Laberge A, Little J, Mitchell J, Prasad C, Siriwardena K, Sparkes R, Speechley K, Stockler S, Trakadis Y, Wafa S, Walia J, Wilson K, Yuskiv N, Potter B, on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)Orphanet Journal of Rare Diseases 2016, 11 :168 (7 December 2016) Abstract | Full Text | PDF Review   Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno MOrphanet Journal of Rare Diseases 2016, 11 :167 (7 December 2016) Abstract | Full Text | PDF Letter to the Editor   Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia Vivanti A, Cordier A, Baujat G, Benachi AOrphanet Journal of Rare Diseases 2016, 11 :166 (5 December 2016) Abstract | Full Text | PDF Research   Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort Pacheco Y, Calender A, Israël-Biet D, Roy P, Lebecque S, Cottin V, Bouvry D, Nunes H, Sève P, Pérard L, Devouassoux G, Freymond N, Khouatra C, Wallaert B, Lamy R, Elsensohn M, Bardel C, Valeyre D, GSF groupOrphanet Journal of Rare Diseases 2016, 11 :165 (3 December 2016) Abstract | Full Text | PDF Letter to the Editor   Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease Walkley S, Davidson C, Jacoby J, Marella P, Ottinger E, Austin C, Porter F, Vite C, Ory DOrphanet Journal of Rare Diseases 2016, 11 :161 (1 December 2016) Abstract | Full Text | PDF Research   Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time Salomon-Estebanez M, Flanagan S, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, Padidela R, Murphy N, Randell T, Cosgrove K, Dunne M, Banerjee IOrphanet Journal of Rare Diseases 2016, 11 :163 (1 December 2016) Abstract | Full Text | PDF Review   Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review Janoudi G, Amegatse W, McIntosh B, Sehgal C, Richter TOrphanet Journal of Rare Diseases 2016, 11 :164 (1 December 2016) Abstract | Full Text | PDF Review   Aspartylglycosaminuria: a review Arvio M, Mononen IOrphanet Journal of Rare Diseases 2016, 11 :162 (1 December 2016) Abstract | Full Text | PDF Research   Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia Forestier-Zhang L, Watts L, Turner A, Teare H, Kaye J, Barrett J, Cooper C, Eastell R, Wordsworth P, Javaid M, Pinedo-Villanueva ROrphanet Journal of Rare Diseases 2016, 11 :160 (28 November 2016) Abstract | Full Text | PDF Review   Ataxia telangiectasia: a review Rothblum-Oviatt C, Wright J, Lefton-Greif M, McGrath-Morrow S, Crawford T, Lederman HOrphanet Journal of Rare Diseases 2016, 11 :159 (25 November 2016) Abstract | Full Text | PDF Review   Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes Ehrhart F, Coort S, Cirillo E, Smeets E, Evelo C, Curfs LOrphanet Journal of Rare Diseases 2016, 11 :158 (25 November 2016) Abstract | Full Text | PDF Letter to the Editor   Symmetrical acrokeratoderma: a case series in Indian patients Vinay K, Sawatkar G, Saikia U, Dogra SOrphanet Journal of Rare Diseases 2016, 11 :156 (22 November 2016) Abstract | Full Text | PDF Research   20-year follow-up study of Danish HHT patients—survival and causes of death Kjeldsen A, Aagaard K, Tørring P, Möller S, Green AOrphanet Journal of Rare Diseases 2016, 11 :157 (22 November 2016) Abstract | Full Text | PDF Research   Current models of care for disorders of sex development – results from an International survey of specialist centres Kyriakou A, Dessens A, Bryce J, Iotova V, Juul A, Krawczynski M, Nordenskjöld A, Rozas M, Sanders C, Hiort O, Ahmed SOrphanet Journal of Rare Diseases 2016, 11 :155 (21 November 2016) Abstract | Full Text | PDF Review   An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry Woodward L, Johnson S, Walle J, Beck J, Gasteyger C, Licht C, Ariceta G, on behalf of the aHUS Registry SABOrphanet Journal of Rare Diseases 2016, 11 :154 (21 November 2016) Abstract | Full Text | PDF Research   Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial Kuppens R, Mahabier E, Bakker N, Siemensma E, Donze S, Hokken-Koelega AOrphanet Journal of Rare Diseases 2016, 11 :153 (16 November 2016) Abstract | Full Text | PDF Review   Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS): a systematic literature review Wagner A, Brucker S, Ueding E, Gröber-Grätz D, Simoes E, Rall K, Kronenthaler A, Schäffeler N, Rieger MOrphanet Journal of Rare Diseases 2016, 11 :152 (16 November 2016) Abstract | Full Text | PDF Letter to the Editor   Insights into rare diseases from social media surveys Davies WOrphanet Journal of Rare Diseases 2016, 11 :151 (9 November 2016) Abstract | Full Text | PDF Research   Multicenter questionnaire survey for sporadic inclusion body myositis in Japan Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata K, Inamori Y, Matsui N, Kimura E, Kusaka H, Kondo T, Higuchi I, Kaji R, Tateyama M, Izumi R, Ono H, Kato M, Warita H, Takahashi T, Nishino I, Aoki MOrphanet Journal of Rare Diseases 2016, 11 :146 (8 November 2016) Abstract | Full Text | PDF Research   The RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases Javaid M, 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 JOrphanet Journal of Rare Diseases 2016, 11 :150 (8 November 2016) Abstract | Full Text | PDF Research   Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? Morimoto M, Myung C, Beirnes K, Choi K, Asakura Y, Bokenkamp A, Bonneau D, Brugnara M, Charrow J, Colin E, Davis A, Deschenes G, Gentile M, Giordano M, Gormley A, Govender R, Joseph M, Keller K, Lerut E, Levtchenko E, Massella L, Mayfield C, Najafian B, Parham D, Spranger J, Stenzel P, Yis U, Yu Z, Zonana J, Hendson G, Boerkoel COrphanet Journal of Rare Diseases 2016, 11 :149 (5 November 2016) Abstract | Full Text | PDF Research   Gene expression profiles and protein-protein interaction networks in amyotrophic lateral sclerosis patients with C9orf72 mutation Kotni M, Zhao M, Wei DOrphanet Journal of Rare Diseases 2016, 11 :148 (5 November 2016) Abstract | Full Text | PDF Research   Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study Samueli S, Abraham K, Dressler A, Gröppel G, Mühlebner-Fahrngruber A, Scholl T, Kasprian G, Laccone F, Feucht MOrphanet Journal of Rare Diseases 2016, 11 :145 (3 November 2016) Abstract | Full Text | PDF Research   Off-label use of orphan medicinal products: a Belgian qualitative study Dooms M, Cassiman D, Simoens SOrphanet Journal of Rare Diseases 2016, 11 :144 (28 October 2016) Abstract | Full Text | PDF Research   The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks Baldo C, Casareto L, Renieri A, Merla G, Garavaglia B, Goldwurm S, Pegoraro E, Moggio M, Mora M, Politano L, Sangiorgi L, Mazzotti R, Viotti V, Meloni I, Pellico M, Barzaghi C, Wang C, Monaco L, Filocamo MOrphanet Journal of Rare Diseases 2016, 11 :142 (24 October 2016) Abstract | Full Text | PDF | PubMed Review   Childhood-onset granulomatosis with polyangiitis and microscopic polyangiitis: systematic review and meta-analysis Iudici M, Quartier P, Terrier B, Mouthon L, Guillevin L, Puéchal XOrphanet Journal of Rare Diseases 2016, 11 :141 (22 October 2016) Abstract | Full Text | PDF Research   Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum Lühl S, Bode H, Schlötzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J, Grünert SOrphanet Journal of Rare Diseases 2016, 11 :140 (21 October 2016) Abstract | Full Text | PDF Research   A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement Akawi N, Ben-Salem S, Hertecant J, John A, Pramathan T, Kizhakkedath P, Ali B, Al-Gazali LOrphanet Journal of Rare Diseases 2016, 11 :139 (21 October 2016) Abstract | Full Text | PDF Research   Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS) Somanadhan S, Larkin POrphanet Journal of Rare Diseases 2016, 11 :138 (10 October 2016) Abstract | Full Text | PDF | PubMed Research   Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations Colombo E, Spaccini L, Volpi L, Negri G, Cittaro D, Lazarevic D, Zirpoli S, Farolfi A, Gervasini C, Cubellis M, Larizza LOrphanet Journal of Rare Diseases 2016, 11 :136 (7 October 2016) Abstract | Full Text | PDF | PubMed Review   DNA ligase IV syndrome; a review Altmann T, Gennery AOrphanet Journal of Rare Diseases 2016, 11 :137 (7 October 2016) Abstract | Full Text | PDF | PubMed Review   The risks of overlooking the diagnosis of secreting pituitary adenomas Brue T, Castinetti FOrphanet Journal of Rare Diseases 2016, 11 :135 (6 October 2016) Abstract | Full Text | PDF | PubMed Research   Combined integrated protocol/basket trial design for a first-in-human trial Derhaschnig U, Gilbert J, Jäger U, Böhmig G, Stingl G, Jilma BOrphanet Journal of Rare Diseases 2016, 11 :134 (4 October 2016) Abstract | Full Text | PDF | PubMed Letter to the Editor   SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Buchert R, Nesbitt A, Tawamie H, Krantz I, Medne L, Helbig I, Matalon D, Reis A, Santani A, Sticht H, Abou Jamra ROrphanet Journal of Rare Diseases 2016, 11 :130 (29 September 2016) Abstract | Full Text | PDF | PubMed Research   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 Squeglia V, Barbarino A, Bova M, Gravante C, Petraroli A, Spadaro G, Triggiani M, Genovese A, Marone GOrphanet Journal of Rare Diseases 2016, 11 :133 (29 September 2016) Abstract | Full Text | PDF | PubMed Research   Rett syndrome: a wide clinical and autonomic picture Pini G, Bigoni S, Congiu L, Romanelli A, Scusa M, Di Marco P, Benincasa A, Morescalchi P, Ferlini A, Bianchi F, Tropea D, Zappella MOrphanet Journal of Rare Diseases 2016, 11 :132 (29 September 2016) Abstract | Full Text | PDF | PubMed Research   Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications Trelinska J, Fendler W, Dachowska I, Kotulska K, Jozwiak S, Antosik K, Gnys P, Borowiec M, Mlynarski WOrphanet Journal of Rare Diseases 2016, 11 :129 (29 September 2016) Abstract | Full Text | PDF | PubMed Review   Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions Schwartz L, Holland A, Dykens E, Strong T, Roof E, Bohonowych JOrphanet Journal of Rare Diseases 2016, 11 :131 (29 September 2016) Abstract | Full Text | PDF | PubMed Research   Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial Robles N, Peces R, Gómez-Ferrer Á, Villacampa F, Álvarez-Ossorio J, Pérez-Segura P, Morote J, Herrera-Imbroda B, Nieto J, Carballido J, Anido U, Valero M, Meseguer C, Torra ROrphanet Journal of Rare Diseases 2016, 11 :128 (26 September 2016) Abstract | Full Text | PDF | PubMed Research   Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study Husson M, Schiff M, Fouilhoux A, Cano A, Dobbelaere D, Brassier A, Mention K, Arnoux J, Feillet F, Chabrol B, Guffon N, Elie C, de Lonlay POrphanet Journal of Rare Diseases 2016, 11 :127 (23 September 2016) Abstract | Full Text | PDF | PubMed Research   Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia Alfadhel M, Benmeakel M, Hossain M, Al Mutairi F, Al Othaim A, Alfares A, Al Balwi M, Alzaben A, Eyaid WOrphanet Journal of Rare Diseases 2016, 11 :126 (15 September 2016) Abstract | Full Text | PDF | PubMed Research   The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity Sergouniotis P, Barton S, Waller S, Perveen R, Ellingford J, Campbell C, Hall G, Gillespie R, Bhaskar S, Ramsden S, Black G, Lovell SOrphanet Journal of Rare Diseases 2016, 11 :125 (14 September 2016) Abstract | Full Text | PDF | PubMed Research   Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel AOrphanet Journal of Rare Diseases 2016, 11 :124 (13 September 2016) Abstract | Full Text | PDF | PubMed Research   Lipid profile status and other related factors in patients with Hyperphenylalaninaemia Couce M, Vitoria I, Aldámiz-Echevarría L, Fernández-Marmiesse A, Roca I, Llarena M, Sánchez-Pintos P, Leis R, Hermida AOrphanet Journal of Rare Diseases 2016, 11 :123 (9 September 2016) Abstract | Full Text | PDF | PubMed Research   The correlation between HTA recommendations and reimbursement status of orphan drugs in Europe Kawalec P, Sagan A, Pilc AOrphanet Journal of Rare Diseases 2016, 11 :122 (6 September 2016) Abstract | Full Text | PDF | PubMed Research   Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C Koens L, Kuiper A, Coenen M, Elting J, de Vries J, Engelen M, Koelman J, van Spronsen F, Spikman J, de Koning T, Tijssen MOrphanet Journal of Rare Diseases 2016, 11 :121 (1 September 2016) Abstract | Full Text | PDF | PubMed Research   Safety and efficacy of vismodegib in patients with basal cell carcinoma nevus syndrome: pooled analysis of two trials Chang A, Arron S, Migden M, Solomon J, Yoo S, Day B, McKenna E, Sekulic AOrphanet Journal of Rare Diseases 2016, 11 :120 (1 September 2016) Abstract | Full Text | PDF | PubMed Research   Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures Campo I, Luisetti M, Griese M, Trapnell B, Bonella F, Grutters J, Nakata K, Van Moorsel C, Costabel U, Cottin V, Ichiwata T, Inoue Y, Braschi A, Bonizzoni G, Iotti G, Tinelli C, Rodi G, for the WLL International Study GroupOrphanet Journal of Rare Diseases 2016, 11 :115 (31 August 2016) Abstract | Full Text | PDF | PubMed Review   Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues Hendriksz C, Berger K, Lampe C, Kircher S, Orchard P, Southall R, Long S, Sande S, Gold JOrphanet Journal of Rare Diseases 2016, 11 :119 (26 August 2016) Abstract | Full Text | PDF | PubMed Research   Improving diagnosis of inherited peripheral neuropathies through gene panel analysis Laššuthová P, Šafka Brožková D, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dřímal P, Seeman POrphanet Journal of Rare Diseases 2016, 11 :118 (22 August 2016) Abstract | Full Text | PDF | PubMed Review   Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases Montaudié H, Chiaverini C, Sbidian E, Charlesworth A, Lacour JOrphanet Journal of Rare Diseases 2016, 11 :117 (20 August 2016) Abstract | Full Text | PDF | PubMed Research   Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013 Unsinn C, Das A, Valayannopoulos V, Thimm E, Beblo S, Burlina A, Konstantopoulou V, Mayorandan S, de Lonlay P, Rennecke J, Derbinski J, Hoffmann G, Häberle JOrphanet Journal of Rare Diseases 2016, 11 :116 (19 August 2016) Abstract | Full Text | PDF | PubMed