viernes, 24 de febrero de 2017

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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)

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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)

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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)

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Review   FOXN1 deficient nude severe combined immunodeficiency

Rota I, Dhalla FOrphanet Journal of Rare Diseases 2017, 12 :6 (11 January 2017)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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Review   Aspartylglycosaminuria: a review

Arvio M, Mononen IOrphanet Journal of Rare Diseases 2016, 11 :162 (1 December 2016)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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Letter to the Editor   Insights into rare diseases from social media surveys

Davies WOrphanet Journal of Rare Diseases 2016, 11 :151 (9 November 2016)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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Review   DNA ligase IV syndrome; a review

Altmann T, Gennery AOrphanet Journal of Rare Diseases 2016, 11 :137 (7 October 2016)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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