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  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Research

    Fabry disease and incidence of cancer

    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...

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

    Orphanet Journal of Rare Diseases 2017 12:150

    Published on: 6 September 2017

  12. Research

    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

    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...

    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…

    Orphanet Journal of Rare Diseases 2017 12:151

    Published on: 6 September 2017

  13. Research

    Prevalence of Amyloidosis in Korea

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

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

    Orphanet Journal of Rare Diseases 2017 12:152

    Published on: 6 September 2017

  14. Research

    Chronic pain in Gaucher disease: skeletal or neuropathic origin?

    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...

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

    Orphanet Journal of Rare Diseases 2017 12:148

    Published on: 31 August 2017

  15. Research

    Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

    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...

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

    Orphanet Journal of Rare Diseases 2017 12:149

    Published on: 31 August 2017

  16. Review

    Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

    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 ...

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

    Orphanet Journal of Rare Diseases 2017 12:147

    Published on: 30 August 2017

  17. Research

    A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

    Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme re...

    Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang and Liron Walsh

    Orphanet Journal of Rare Diseases 2017 12:144

    Published on: 24 August 2017

  18. Research

    What can the CF registry tell us about rare CFTR-mutations? A Belgian study

    CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability i...

    E. De Wachter, M. Thomas, S. S. Wanyama, S. Seneca and A. Malfroot

    Orphanet Journal of Rare Diseases 2017 12:142

    Published on: 22 August 2017

  19. Research

    Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

    The aim of this study was to determine the economic burden and health-related quality of life (HRQOL) of patients with Spinal Muscular Atrophy (SMA) and their caregivers in Spain.

    Julio López-Bastida, Luz María Peña-Longobardo, Isaac Aranda-Reneo, Eduardo Tizzano, Mark Sefton and Juan Oliva-Moreno

    Orphanet Journal of Rare Diseases 2017 12:141

    Published on: 18 August 2017

  20. Position statement

    Critical appraisal of arguments for the delayed-start design proposed as alternative to the parallel-group randomized clinical trial design in the field of rare disease

    A number of papers have proposed or evaluated the delayed-start design as an alternative to the standard two-arm parallel group randomized clinical trial (RCT) design in the field of rare disease. However the ...

    Loukia M. Spineli, Eva Jenz, Anika Großhennig and Armin Koch

    Orphanet Journal of Rare Diseases 2017 12:140

    Published on: 17 August 2017

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