Latest Article Alert from Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Research   Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EMOrphanet Journal of Rare Diseases 2015, 10 :40 (2 April 2015) Abstract | Provisional PDF Review   Progressive hemifacial atrophy: a review Tolkachjov SN, Patel NG, Tollefson MMOrphanet Journal of Rare Diseases 2015, 10 :39 (1 April 2015) Abstract | Provisional PDF Research   Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms Sirrs S, van Karnebeek C, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, Testa D, Dubin D, Carbonetti G, Glynn SE, Sayson B, Robinson WP, Han B, Wishart D, Ross CJ, Wasserman WW, Hurwitz TA, Sinclair G, Kaczocha MOrphanet Journal of Rare Diseases 2015, 10 :38 (28 March 2015) Abstract | Provisional PDF Reviewer Acknowledgement   Reviewer acknowledgement 2015 Aymé SOrphanet Journal of Rare Diseases 2015, 10 :37 (28 March 2015) Abstract | Full Text | PDF Research   Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak COrphanet Journal of Rare Diseases 2015, 10 :36 (27 March 2015) Abstract | Full Text | PDF Research   Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding Aymé S, Bellet B, Rath AOrphanet Journal of Rare Diseases 2015, 10 :35 (26 March 2015) Abstract | Full Text | PDF Research   Familial Mediterranean fever without MEFV mutations: a case–control study Ben-Zvi I, Herskovizh C, Kukuy O, Kassel Y, Grossman C, Livneh AOrphanet Journal of Rare Diseases 2015, 10 :34 (25 March 2015) Abstract | Full Text | PDF Review   Olmsted syndrome: clinical, molecular and therapeutic aspects Duchatelet S, Hovnanian AOrphanet Journal of Rare Diseases 2015, 10 :33 (17 March 2015) Abstract | Full Text | PDF Research   Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type Moes-Sosnowska J, Szafron L, Nowakowska D, Dansonka-Mieszkowska A, Budzilowska A, Konopka B, Plisiecka-Halasa J, Podgorska A, Rzepecka IK, Kupryjanczyk JOrphanet Journal of Rare Diseases 2015, 10 :32 (15 March 2015) Abstract | Full Text | PDF Research   Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue M, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan J, Pichard S, Valayannopoulos V, Verloes A, Levade TOrphanet Journal of Rare Diseases 2015, 10 :31 (15 March 2015) Abstract | Full Text | PDF Research   The natural history of adult pulmonary Langerhans cell histiocytosis: a prospective multicentre study Tazi A, de Margerie C, Naccache J, Fry S, Dominique S, Jouneau S, Lorillon G, Bugnet E, Chiron R, Wallaert B, Valeyre D, Chevret SOrphanet Journal of Rare Diseases 2015, 10 :30 (14 March 2015) Abstract | Provisional PDF Review   The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici COrphanet Journal of Rare Diseases 2015, 10 :29 (11 March 2015) Abstract | Full Text | PDF Position statement   A proposed definition of rare diseases for China: from the perspective of return on investment in new orphan drugs Cui Y, Han JOrphanet Journal of Rare Diseases 2015, 10 :28 (7 March 2015) Abstract | Full Text | PDF | PubMed Research   Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CFOrphanet Journal of Rare Diseases 2015, 10 :27 (7 March 2015) Abstract | Provisional PDF Research   The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies Colombo C, Minna E, Rizzetti M, Romeo P, Lecis D, Persani L, Mondellini P, Pierotti MA, Greco A, Fugazzola L, Borrello MOrphanet Journal of Rare Diseases 2015, 10 :25 (1 March 2015) Abstract | Full Text | PDF Letter to the Editor   High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case–control study Cunha K, Rozza-de-Menezes R, Luna E, Almeida L, Pontes R, Almeida P, de Aguiar L, Dias EOrphanet Journal of Rare Diseases 2015, 10 :24 (28 February 2015) Abstract | Full Text | PDF | PubMed Research   The genotypic and phenotypic spectrum of PIGA deficiency Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek COrphanet Journal of Rare Diseases 2015, 10 :23 (27 February 2015) Abstract | Provisional PDF Research   Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D’Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria GOrphanet Journal of Rare Diseases 2015, 10 :22 (27 February 2015) Abstract | Full Text | PDF Research   Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD) Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W, Volkmar B, Scholl-Bürgi SOrphanet Journal of Rare Diseases 2015, 10 :21 (22 February 2015) Abstract | Provisional PDF Research   Clinical characteristics and prognostic factors of adult hemophagocytic syndrome patients: a retrospective study of increasing awareness of a disease from a single-center in China Li F, Yang Y, Jin F, Dehoedt C, Rao J, Zhou Y, Li P, Yang G, Wang M, Zhang R, Yang YOrphanet Journal of Rare Diseases 2015, 10 :20 (15 February 2015) Abstract | Full Text | PDF | PubMed Research   Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey Rossi-Semerano L, Fautrel B, Wendling D, Hachulla E, Galeotti C, Semerano L, Touitou I, Koné-Paut I, the MAIL1 (Maladies Auto-inflammatoires et Anti-IL-1) study Group on the behalf of CRI (Club Rhumatisme et Inflammation)Orphanet Journal of Rare Diseases 2015, 10 :19 (15 February 2015) Abstract | Full Text | PDF | PubMed Research   A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study Bhattacharya K, Mundy H, Lilburn MF, Champion MP, Morley DW, Maillot FOrphanet Journal of Rare Diseases 2015, 10 :18 (15 February 2015) Abstract | Full Text | PDF | PubMed Review   Bone health in phenylketonuria: a systematic review and meta-analysis Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RHOrphanet Journal of Rare Diseases 2015, 10 :17 (15 February 2015) Abstract | Full Text | PDF | PubMed Research   OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HOrphanet Journal of Rare Diseases 2015, 10 :15 (10 February 2015) Abstract | Full Text | PDF Review   Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints Kakkis ED, O’Donovan M, Cox G, Hayes M, Goodsaid F, Tandon P, Furlong P, Boynton S, Bozic M, Orfali M, Thornton MOrphanet Journal of Rare Diseases 2015, 10 :16 (10 February 2015) Abstract | Full Text | PDF | PubMed Letter to the Editor   New spastic paraplegia phenotype associated to mutation of NFU1 Tonduti D, Dorboz I, Imbard A, Slama A, Boutron A, Pichard S, Elmaleh M, Vallée L, Benoist J, Ogier H, Boespflug-Tanguy OOrphanet Journal of Rare Diseases 2015, 10 :13 (8 February 2015) Abstract | Full Text | PDF | PubMed Research   Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience Scala I, Concolino D, Casa R, Nastasi A, Ungaro C, Paladino S, Capaldo B, Ruoppolo M, Daniele A, Bonapace G, Strisciuglio P, Parenti G, Andria GOrphanet Journal of Rare Diseases 2015, 10 :14 (8 February 2015) Abstract | Full Text | PDF | PubMed Research   Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou LOrphanet Journal of Rare Diseases 2015, 10 :12 (8 February 2015) Abstract | Full Text | PDF | PubMed Research   A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy Zanichelli A, Arcoleo F, Barca M, Borrelli P, Bova M, Cancian M, Cicardi M, Cillari E, De Carolis C, De Pasquale T, Del Corso I, Di Rocco P, Guarino M, Massaro I, Minale P, Montinaro V, Neri S, Perricone R, Pucci S, Quattrocchi P, Rossi O, Triggiani M, Zanierato G, Zoli AOrphanet Journal of Rare Diseases 2015, 10 :11 (6 February 2015) Abstract | Full Text | PDF | PubMed Letter to the Editor   Cost effective assay choice for rare disease study designs Campbell DD, Porsch RM, Cherny SS, Capra V, Merello E, De Marco P, Sham PC, Garcia-Barceló MOrphanet Journal of Rare Diseases 2015, 10 :10 (4 February 2015) Abstract | Full Text | PDF Research   Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients Campens L, Callewaert B, Muiño Mosquera L, Renard M, Symoens S, De Paepe A, Coucke P, De Backer JOrphanet Journal of Rare Diseases 2015, 10 :9 (3 February 2015) Abstract | Full Text | PDF Research   Vitamin D and skeletal health in autoimmune bullous skin diseases: a case control study Marzano A, Trevisan V, Cairoli E, Eller-Vainicher C, Morelli V, Spada A, Crosti C, Chiodini IOrphanet Journal of Rare Diseases 2015, 10 :8 (3 February 2015) Abstract | Full Text | PDF Research   New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients Ceballos-Picot I, Le Dantec A, Brassier A, Jaïs J, Ledroit M, Cahu J, Ea H, Daignan-Fornier B, Pinson BOrphanet Journal of Rare Diseases 2015, 10 :7 (23 January 2015) Abstract | Full Text | PDF Research   Prognostic and predictive role of CXCR4, IGF-1R and Ezrin expression in localized synovial sarcoma: is chemotaxis important to tumor response? Palmerini E, Benassi M, Quattrini I, Pazzaglia L, Donati D, Benini S, Gamberi G, Gambarotti M, Picci P, Ferrari SOrphanet Journal of Rare Diseases 2015, 10 :6 (23 January 2015) Abstract | Full Text | PDF Research   A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China Li X, Zhao L, Zhou S, Hu C, Shi Y, Shi W, Li H, Liu F, Wu B, Wang YOrphanet Journal of Rare Diseases 2015, 10 :5 (23 January 2015) Abstract | Full Text | PDF Research   Diagnosis and treatment of congenital abdominal aortic aneurysm: a systematic review of reported cases Wang Y, Tao YOrphanet Journal of Rare Diseases 2015, 10 :4 (21 January 2015) Abstract | Full Text | PDF Research   Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis Sagban T, Scharf RE, Wagenhäuser MU, Oberhuber A, Schelzig H, Grabitz K, Duran MOrphanet Journal of Rare Diseases 2015, 10 :3 (21 January 2015) Abstract | Full Text | PDF Research   Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes M, Ferrer X, Kuntzer T, Levy N, Pouget J, Attarian SOrphanet Journal of Rare Diseases 2015, 10 :2 (21 January 2015) Abstract | Full Text | PDF Research   Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension Pousada G, Baloira A, Valverde DOrphanet Journal of Rare Diseases 2015, 10 :1 (21 January 2015) Abstract | Full Text | PDF