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Orphanet Journal of Rare Diseases

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  1. Content type: Review

    To evaluate the feasibility of microRNAs (miR) in clinical use to fill in the gap of current methodology commonly used to test hearing impairment in MELAS patients.

    Authors: Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo and Corrado Angelini

    Citation: Orphanet Journal of Rare Diseases 2018 13:35

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  2. Content type: Research

    Sirolimus has been shown to be effective in patients with lymphangioleiomyomatosis (LAM). We wish to summarize our experience using sirolimus and its effectiveness in LAM patients.

    Authors: Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2018 13:34

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  3. Content type: Research

    Evaluation of the efficacy of oral cyclosporine A as a prophylactic agent in preventing second-eye involvement in Leber’s hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multic...

    Authors: Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete and Dan Miléa

    Citation: Orphanet Journal of Rare Diseases 2018 13:33

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  4. Content type: Research

    An agreement, signed in 2007 by the 49 French Cystic Fibrosis Centers, included a commitment to participate, within the next 5 years, in a care quality assessment and improvement program (QIP). The objective w...

    Authors: Dominique Pougheon Bertrand, Guy Minguet, Pierre Lombrail and Gilles Rault

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):12

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    This article is part of a Supplement: Volume 13 Supplement 1

  5. Content type: Research

    Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a c...

    Authors: Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada…

    Citation: Orphanet Journal of Rare Diseases 2018 13:32

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  6. Content type: Research

    The French Cystic Fibrosis Registry takes a census of the population of patients and records their annual data transmitted by Cystic Fibrosis Centers (CFCs). Quality of patient data has been a focus in the pas...

    Authors: Nadine Pellen, Laëtitia Guéganton, Dominique Pougheon Bertrand and Gilles Rault

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):9

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    This article is part of a Supplement: Volume 13 Supplement 1

  7. Content type: Research

    Quality Improvement Programs (QIP) in cystic fibrosis (CF) care have emerged as strategies to reduce variability of care and of patient outcomes among centres facilitating the implementation of Best Practices ...

    Authors: Dominique Pougheon Bertrand, Guy Minguet, Rémi Gagnayre and Pierre Lombrail

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):19

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    This article is part of a Supplement: Volume 13 Supplement 1

  8. Content type: Research

    The PHARE-M care quality improvement program, modeled on the US Cystic Fibrosis Quality Improvement Program, was introduced at 14 cystic fibrosis centers (CFCs) in the French Cystic Fibrosis Network between 20...

    Authors: Dominique Pougheon Bertrand, Emmanuel Nowak, Clémence Dehillotte, Lydie Lemmonier and Gilles Rault

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):10

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    This article is part of a Supplement: Volume 13 Supplement 1

  9. Content type: Research

    In 2010, the time on the lung transplant waiting list in Nantes University Hospital (NUH) was 9.2 months, compared to a French national median of about 4 months. The NUH transplant unit performs both heart and...

    Authors: Isabelle Danner-Boucher, Véronique Loppinet, Aurore Boxus, Claire Dary, Anne Brigitte Lambert, Marine Prieur, Céline Vallet and Adrien Tissot

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):11

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    This article is part of a Supplement: Volume 13 Supplement 1

  10. Content type: Research

    The two pediatric cystic fibrosis centers (CFCs) in Paris (Robert Debré) and Nantes, France, have been developing therapeutic patient education (TPE) programs since 2006 and have been engaged in the pilot phas...

    Authors: Michele Gérardin, Anne Pesle, Dominique Pougheon-Bertrand, Pilar Léger, Céline Vallet, Tiphaine Bihouee and Valérie David

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):7

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    This article is part of a Supplement: Volume 13 Supplement 1

  11. Content type: Research

    Between 2002 and 2006 France launched a national cystic fibrois (CF) newborn screening program; organized a network of specialized CF care centers; and issued CF diagnostic and treatment standards. To continue...

    Authors: Kathryn A. Sabadosa, Marjorie M. Godfrey and Bruce C. Marshall

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):13

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    This article is part of a Supplement: Volume 13 Supplement 1

  12. Content type: Research

    The Cystic Fibrosis (CF) center in Roscoff (Brittany) has been involved in therapeutic education programs (TEP) since 2006 and took part in the pilot phase of the French quality improvement program (QIP) since...

    Authors: Krista Revert, Laurence Audran, Jocelyne Pengam, Pascal Lesne and Dominique Pougheon Bertrand

    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):8

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    This article is part of a Supplement: Volume 13 Supplement 1

  13. Content type: Research

    Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneo...

    Authors: Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P. Boyd, Amy Theos, David T. Redden and Bruce Korf

    Citation: Orphanet Journal of Rare Diseases 2018 13:31

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  14. Content type: Review

    It has been suggested that ultra-rare diseases should be recognized as distinct from more prevalent rare diseases, but how drugs developed to treat ultra-rare diseases (DURDs) might be distinguished from drugs...

    Authors: Trevor Richter, Ghayath Janoudi, William Amegatse and Sandra Nester-Parr

    Citation: Orphanet Journal of Rare Diseases 2018 13:15

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  15. Content type: Review

    Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human ...

    Authors: Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins and Joseph J. Orsini

    Citation: Orphanet Journal of Rare Diseases 2018 13:30

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  16. Content type: Review

    5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clini...

    Authors: Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro and Yann Nadjar

    Citation: Orphanet Journal of Rare Diseases 2018 13:29

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  17. Content type: Research

    Public payer reimbursement for non-oncology drugs in Canada, including orphan drugs, is based on recommendations by the Common Drug Review (CDR) (with the exception of Quebec). CDR has been criticized for nega...

    Authors: John I. McCormick, L. Diana Berescu and Nabil Tadros

    Citation: Orphanet Journal of Rare Diseases 2018 13:27

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  18. Content type: Research

    The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. We aime...

    Authors: L. Marti-Sanchez, J. D. Ortigoza-Escobar, A. Darling, M. Villaronga, H. Baide, M. Molero-Luis, M. Batllori, M. I. Vanegas, J. Muchart, L. Aquino, R. Artuch, A. Macaya, M. A. Kurian and Pérez Dueñas

    Citation: Orphanet Journal of Rare Diseases 2018 13:28

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  19. Content type: Research

    Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of ...

    Authors: Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini and Katarzyna Kotulska-Jóźwiak

    Citation: Orphanet Journal of Rare Diseases 2018 13:25

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  20. Content type: Research

    Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with seb...

    Authors: Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino and Stefano Bertolini

    Citation: Orphanet Journal of Rare Diseases 2018 13:24

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  21. Content type: Research

    Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counse...

    Authors: Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer and Susann Schweiger

    Citation: Orphanet Journal of Rare Diseases 2018 13:23

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  22. Content type: Research

    Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration....

    Authors: Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti and Laura Bannach Jardim

    Citation: Orphanet Journal of Rare Diseases 2018 13:20

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  23. Content type: Research

    Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotat...

    Authors: Angela Adler, Pia Kirchmeier, Julian Reinhard, Barbara Brauner, Irmtraud Dunger, Gisela Fobo, Goar Frishman, Corinna Montrone, H.-Werner Mewes, Matthias Arnold and Andreas Ruepp

    Citation: Orphanet Journal of Rare Diseases 2018 13:22

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  24. Content type: Research

    In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an eme...

    Authors: A. Pinto, M. Alfadhel, R. Akroyd, Y. Atik Altınok, S. M. Bernabei, L. Bernstein, G. Bruni, G. Caine, E. Cameron, R. Carruthers, B. Cochrane, A. Daly, F. de Boer, S. Delaunay, A. Dianin, M. Dixon…

    Citation: Orphanet Journal of Rare Diseases 2018 13:21

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