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  1. Research

    Health-related quality of life among adults with diverse rare disorders

    Twenty-five to 30 million Americans live with a rare disease (RD) and share challenges unique to RD. The majority of research on RDs has focused on etiology, treatment and care, while the limited health-relate...

    Kathleen R. Bogart and Veronica L. Irvin

    Orphanet Journal of Rare Diseases 2017 12:177

    Published on: 7 December 2017

  2. Research

    A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

    Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in add...

    Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad and Jouni Uitto

    Orphanet Journal of Rare Diseases 2017 12:176

    Published on: 6 December 2017

  3. Research

    Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States

    Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates o...

    Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook and W. Dana Flanders

    Orphanet Journal of Rare Diseases 2017 12:175

    Published on: 28 November 2017

  4. Review

    Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

    Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment...

    Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni and Valentina Massa

    Orphanet Journal of Rare Diseases 2017 12:174

    Published on: 21 November 2017

  5. Research

    Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

    Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosid...

    Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur…

    Orphanet Journal of Rare Diseases 2017 12:173

    Published on: 17 November 2017

  6. Research

    Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

    Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients.

    Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton and Georgia Xiromerisiou

    Orphanet Journal of Rare Diseases 2017 12:172

    Published on: 2 November 2017

  7. Letter to the Editor

    Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children

    Dry cough, dyspenea and diffuse centrilobular nodules in both lungs of radiologic findings similar to hypersensitivity pneumonitis (HP) are rare initial presentation in chronic granulomatous disease (CGD). CGD...

    Hui Liu, Jinrong Liu, Huimin Li, Yun Peng and Shunying Zhao

    Orphanet Journal of Rare Diseases 2017 12:169

    Published on: 26 October 2017

  8. Research

    Mortality in patients with Sanfilippo syndrome

    Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a differen...

    Christine Lavery, Chris J. Hendriksz and Simon A. Jones

    Orphanet Journal of Rare Diseases 2017 12:168

    Published on: 23 October 2017

  9. Research

    A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

    Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best know...

    Riccardo Papa, Matteo Doglio, Helen J. Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago…

    Orphanet Journal of Rare Diseases 2017 12:167

    Published on: 18 October 2017

  10. Research

    KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

    Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule u...

    Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath and Jan Smeitink

    Orphanet Journal of Rare Diseases 2017 12:163

    Published on: 16 October 2017

  11. Review

    The complete European guidelines on phenylketonuria: diagnosis and treatment

    Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreate...

    A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn…

    Orphanet Journal of Rare Diseases 2017 12:162

    Published on: 12 October 2017

  12. Research

    Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

    Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replace...

    Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego and Michael Beck

    Orphanet Journal of Rare Diseases 2017 12:161

    Published on: 3 October 2017

  13. Research

    A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

    Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations.

    Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz…

    Orphanet Journal of Rare Diseases 2017 12:160

    Published on: 2 October 2017

  14. Research

    Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia

    Pelvic symptoms are distressing symptoms experienced by patients with Friedreich’s Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual s...

    Meher Lad, Michael H. Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A. Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker and Paola Giunti

    Orphanet Journal of Rare Diseases 2017 12:158

    Published on: 26 September 2017

  15. Research

    Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

    To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency ...

    Nobuko Yamamoto, Hideki Mutai, Kazunori Namba, Noriko Morita, Shin Masuda, Yasuyuki Nishi, Atsuko Nakano, Sawako Masuda, Masato Fujioka, Kimitaka Kaga, Kaoru Ogawa and Tatsuo Matsunaga

    Orphanet Journal of Rare Diseases 2017 12:157

    Published on: 25 September 2017

  16. Research

    The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study

    Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaem...

    Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki and Handrean Soran

    Orphanet Journal of Rare Diseases 2017 12:156

    Published on: 19 September 2017

  17. Research

    A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

    We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation betwe...

    Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas and Mercedes Serrano

    Orphanet Journal of Rare Diseases 2017 12:155

    Published on: 15 September 2017

  18. Review

    Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

    Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conduc...

    Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe and Sian Taylor-Phillips

    Orphanet Journal of Rare Diseases 2017 12:154

    Published on: 11 September 2017

  19. Letter to the Editor

    Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

    Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and...

    Marco Ritelli, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Piergiacomo Calzavara-Pinton and Marina Colombi

    Orphanet Journal of Rare Diseases 2017 12:153

    Published on: 7 September 2017

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