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Orphanet Journal of Rare Diseases

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  1. Content type: Position statement

    Our ability to evaluate outcomes which genuinely reflect patients’ unmet needs, hopes and concerns is of pivotal importance. However, much current clinical research and practice falls short of this objective b...

    Authors: Thomas Morel and Stefan J. Cano

    Citation: Orphanet Journal of Rare Diseases 2017 12:171

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  2. Content type: Letter to the Editor

    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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:169

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  3. Content type: Research

    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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:168

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  4. Content type: Research

    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...

    Authors: 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…

    Citation: Orphanet Journal of Rare Diseases 2017 12:167

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  5. Content type: Research

    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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:163

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  6. Content type: Review

    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...

    Authors: 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…

    Citation: Orphanet Journal of Rare Diseases 2017 12:162

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  7. Content type: Research

    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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:161

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  8. Content type: Letter to the Editor

    A differential diagnosis must be made between transient yellow discoloration of the nails and yellow nail syndrome. We highlight some practical aspects of yellow nail discoloration.

    Authors: Anca Chiriac, Adrian Naznean, Cristian Podoleanu and Simona Stolnicu

    Citation: Orphanet Journal of Rare Diseases 2017 12:159

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  9. Content type: Research

    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.

    Authors: 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…

    Citation: Orphanet Journal of Rare Diseases 2017 12:160

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  10. Content type: Research

    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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:158

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  11. Content type: Research

    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 ...

    Authors: 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

    Citation: Orphanet Journal of Rare Diseases 2017 12:157

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  12. Content type: Research

    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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:156

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  13. Content type: Research

    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...

    Authors: 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

    Citation: Orphanet Journal of Rare Diseases 2017 12:155

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  14. Content type: 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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:154

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  15. Content type: Letter to the Editor

    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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:153

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  16. Content type: Research

    Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, i...

    Authors: Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami and Derralynn Hughes

    Citation: Orphanet Journal of Rare Diseases 2017 12:150

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  17. Content type: Research

    Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to...

    Authors: Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller…

    Citation: Orphanet Journal of Rare Diseases 2017 12:151

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  18. Content type: Research

    The aim of this study was to assess in amyloidosis prevalence in Korea between 2006 and 2015.

    Authors: Su Ra Seo, Shin Yi Jang, Ga Yeon Lee, Bareun Choi, Heeran Chun, Eun Jeong Cho and Sung-il Cho

    Citation: Orphanet Journal of Rare Diseases 2017 12:152

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  19. Content type: Research

    Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considere...

    Authors: Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri, Sara Rinaldo, Daniela Macor, Alessandro Moro, Roberto Eleopra and Bruno Bembi

    Citation: Orphanet Journal of Rare Diseases 2017 12:148

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  20. Content type: Research

    Duchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopat...

    Authors: Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura and Ichizo Nishino

    Citation: Orphanet Journal of Rare Diseases 2017 12:149

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  21. Content type: Review

    Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants have been found in genes ...

    Authors: Alexandre Janin, Delphine Bauer, Francesca Ratti, Gilles Millat and Alexandre Méjat

    Citation: Orphanet Journal of Rare Diseases 2017 12:147

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