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Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of alpha-lipoic acid and N-acetylcysteine
Filipa Ponte, Rosa Sousa, Ana P Fernandes, Cristina Goncalves, Jose Barbot, Felix Carvalho, Beatriz Porto Orphanet Journal of Rare Diseases 2012, 7:28 (16 May 2012)
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Editor’s summary
A combination of antioxidants improves the genetic stability of blood cells from patients with Fanconi anemia, which could help block or delay the progression of this rare genetic disorder.
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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Bassam R Ali, Jennifer L. Silhavy, Nadia A Akawi, Joseph G. Gleeson, Lihadh Al-Gazali Orphanet Journal of Rare Diseases 2012, 7:27 (15 May 2012)
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Hypoglycaemia related to inherited metabolic diseases in adults
Claire Douillard, Karine Mention, Dries Dobbelaere, Jean-Louis Wemeau, Jean-Marie Saudubray, Marie-Christine Vantyghem Orphanet Journal of Rare Diseases 2012, 7:26 (15 May 2012)
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Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
Amanda J Heslegrave, Ritika R Kapoor, Simon Eaton, Bernadette Chadefaux, Teoman Ackay, Enver Simsek, Sarah E Flanagan, Sian Ellard, Khalid Hussain Orphanet Journal of Rare Diseases 2012, 7:25 (14 May 2012)
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Past, present and future of hemophilia: a narrative review
Massimo Franchini, Pier M Mannucci Orphanet Journal of Rare Diseases 2012, 7:24 (2 May 2012)
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Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management
Emma Hansson, Henry Svensson, Håkan Brorson Orphanet Journal of Rare Diseases 2012, 7:23 (30 April 2012)
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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Minke H de Ru, Quirine GA Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer, Lorne A Clarke, Carla E Hollak, Shuan-Pei Lin, Maria-Veronica Munoz Rojas, Gregory M Pastores, Julian A Raiman, Maurizio Scarpa, Eileen P Treacy, Anna Tylki-Szymanska, Edmond Wraith, Jiri Zeman, Frits A Wijburg Orphanet Journal of Rare Diseases 2012, 7:22 (23 April 2012)
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Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.
Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, Roberta Siviero, Cristina Cerqua, Mara Doimo, Giuseppe Basso, Sabrina Sacconi, Matteo Cassina, Rosario Rizzuto, Sonja Brosel, Mercy M Davidson, Salvatore DiMauro, Eric A Schon, Maurizio Clementi, Eva Trevisson, Leonardo Salviati Orphanet Journal of Rare Diseases 2012, 7:21 (19 April 2012)
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Behcet's disease
David Saadoun, Bertrand Wechsler Orphanet Journal of Rare Diseases 2012, 7:20 (12 April 2012)
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Cystinuria: an inborn cause of urolithiasis
Thomas Eggermann, Andreas Venghaus, Klaus Zerres Orphanet Journal of Rare Diseases 2012, 7:19 (5 April 2012)
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez Orphanet Journal of Rare Diseases 2012, 7:18 (27 March 2012)
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Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
Pilar Giraldo, Pilar Alfonso, Pilar Irún, Laura Gort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg, Clara M Sá Miranda, Miguel Pocovi Orphanet Journal of Rare Diseases 2012, 7:17 (19 March 2012)
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Pulmonary langerhans cell histiocytosis
Harpreet S Suri, Eunhee S Yi, Gregorz S Nowakowski, Robert Vassallo Orphanet Journal of Rare Diseases 2012, 7:16 (19 March 2012)
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Public support for neonatal screening for Pompe disease, a broad-phenotype condition
Stephanie Weinreich, Tessel Rigter, Carla van El, Wybo Dondorp, Pieter Kostense, Ans T van der Ploeg, Arnold JJ Reuser, Martina Cornel, Marloes Hagemans Orphanet Journal of Rare Diseases 2012, 7:15 (14 March 2012)
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Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France
Virginie Scotet, Ingrid Duguépéroux, Philippe Saliou, Gilles Rault, Michel Roussey, Marie-Pierre Audrézet, Claude Férec Orphanet Journal of Rare Diseases 2012, 7:14 (1 March 2012)
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Nijmegen breakage syndrome (NBS)
Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed Orphanet Journal of Rare Diseases 2012, 7:13 (28 February 2012)
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Gaucher disease and the synucleinopathies: refining the relationship
Tessa N Campbell, Francis YM Choy Orphanet Journal of Rare Diseases 2012, 7:12 (31 January 2012)
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Endocrine manifestations related to inherited metabolic diseases in adults
Marie-Christine Vantyghem, Dries Dobbelaere, Karine Mention, Jean-Louis Wemeau, Jean-Marie Saudubray, Claire Douillard Orphanet Journal of Rare Diseases 2012, 7:11 (28 January 2012)
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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms
Ettore Salsano, Silvia Tabano, Silvia M Sirchia, Patrizia Colapietro, Barbara Castellotti, Cinzia Gellera, Marco Rimoldi, Viviana Pensato, Caterina Mariotti, Davide Pareyson, Monica Miozzo, Graziella Uziel Orphanet Journal of Rare Diseases 2012, 7:10 (26 January 2012)
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Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
Sarah C Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K Otfried Schwab, Jerry Vockley, Willy Lehnert, Regina Ensenauer Orphanet Journal of Rare Diseases 2012, 7:9 (25 January 2012)
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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz Orphanet Journal of Rare Diseases 2012, 7:8 (25 January 2012)
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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Elisa A Colombo, J Fernando Bazan, Gloria Negri, Cristina Gervasini, Nursel H Elcioglu, Deniz Yucelten, Ilknur Altunay, Umram Cetincelik, Anna Teti, Andrea Del Fattore, Matteo Luciani, Spencer K Sullivan, Albert C Yan, Ludovica Volpi, Lidia Larizza Orphanet Journal of Rare Diseases 2012, 7:7 (23 January 2012)
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Clinical expression of Menkes disease in females with normal karyotype
Lisbeth Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeynep Tümer, Nina Horn, Thomas G Jensen Orphanet Journal of Rare Diseases 2012, 7:6 (22 January 2012)
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ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure
Yingying Qin, Mei Sun, Li You, Deying Wei, Jielin Sun, Xiaoyan Liang, Bo Zhang, Hong Jiang, Jianfeng Xu, Zi-Jiang Chen Orphanet Journal of Rare Diseases 2012, 7:5 (17 January 2012)
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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Valente, Eugen Boltshauser Orphanet Journal of Rare Diseases 2012, 7:4 (11 January 2012)
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