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  1. Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCA...

    Authors: Catharina M L Touw, G Peter A Smit, Maaike de Vries, Johannis B C de Klerk, Annet M Bosch, Gepke Visser, Margot F Mulder, M Estela Rubio-Gozalbo, Bert Elvers, Klary E Niezen-Koning, Ronald J A Wanders, Hans R Waterham, Dirk-Jan Reijngoud and Terry G J Derks
    Citation: Orphanet Journal of Rare Diseases 2012 7:30
  2. Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on...

    Authors: Maria E Papadaki, Steven A Lietman, Michael A Levine, Bjorn R Olsen, Leonard B Kaban and Ernst J Reichenberger
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S6

    This article is part of a Supplement: Volume 7 Supplement 1

  3. Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe fa...

    Authors: Ernst J Reichenberger, Michael A Levine, Bjorn R Olsen, Maria E Papadaki and Steven A Lietman
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S5

    This article is part of a Supplement: Volume 7 Supplement 1

  4. Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent pre...

    Authors: Michael T Collins, Frederick R Singer and Erica Eugster
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S4

    This article is part of a Supplement: Volume 7 Supplement 1

  5. One of the most common complications of fibrous dysplasia of bone (FD) is bone pain. Usual pain killers are often of inadequate efficacy to control this bone pain. The mechanism of bone pain in FD remains unce...

    Authors: Roland D Chapurlat, Deborah Gensburger, Juan M Jimenez-Andrade, Joseph R Ghilardi, Marilyn Kelly and Patrick Mantyh
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S3

    This article is part of a Supplement: Volume 7 Supplement 1

  6. Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells ...

    Authors: JS Lee, EJ FitzGibbon, YR Chen, HJ Kim, LR Lustig, SO Akintoye, MT Collins and LB Kaban
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S2

    This article is part of a Supplement: Volume 7 Supplement 1

  7. The surgical management of Polyostotic Fibrous Dysplasia (FD) of bone is technically demanding. The most effective methods to manage the associated bone deformity remain unclear. The marked variation in the de...

    Authors: Robert P Stanton, Ernesto Ippolito, Dempsey Springfield, Lynn Lindaman, Shlomo Wientroub and Arabella Leet
    Citation: Orphanet Journal of Rare Diseases 2012 7(Suppl 1):S1

    This article is part of a Supplement: Volume 7 Supplement 1

  8. Chronic obstructive pulmonary disease (COPD) is influenced by environmental and genetic factors. An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin ...

    Authors: A-Rembert Koczulla, Danny Jonigk, Thomas Wolf, Christian Herr, Sarah Noeske, Walter Klepetko, Claus Vogelmeier, Nils von Neuhoff, Johanna Rische, Sabine Wrenger, Heiko Golpon, Robert Voswinckel, Maurizio Luisetti, Ilaria Ferrarotti, Tobias Welte and Sabina Janciauskiene
    Citation: Orphanet Journal of Rare Diseases 2012 7:29
  9. Fanconi Anemia (FA) is a rare genetic disorder, characterized by progressive bone marrow failure and increased predisposition to cancer. Despite being highly heterogeneous, all FA patients are hypersensitive t...

    Authors: Filipa Ponte, Rosa Sousa, Ana Paula Fernandes, Cristina Gonçalves, José Barbot, Félix Carvalho and Beatriz Porto
    Citation: Orphanet Journal of Rare Diseases 2012 7:28
  10. We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26.

    Authors: Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson and Lihadh Al-Gazali
    Citation: Orphanet Journal of Rare Diseases 2012 7:27
  11. In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hy...

    Authors: Claire Douillard, Karine Mention, Dries Dobbelaere, Jean-Louis Wemeau, Jean-Marie Saudubray and Marie-Christine Vantyghem
    Citation: Orphanet Journal of Rare Diseases 2012 7:26
  12. Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). HADH encodes short chain 3-hydroxacyl-CoA dehydrogenase, an enzyme that catalyses...

    Authors: Amanda J Heslegrave, Ritika R Kapoor, Simon Eaton, Bernadette Chadefaux, Teoman Akcay, Enver Simsek, Sarah E Flanagan, Sian Ellard and Khalid Hussain
    Citation: Orphanet Journal of Rare Diseases 2012 7:25
  13. Over the past forty years the availability of coagulation factor replacement therapy has greatly contributed to the improved care of people with hemophilia. Following the blood-borne viral infections in the la...

    Authors: Massimo Franchini and Pier Mannuccio Mannucci
    Citation: Orphanet Journal of Rare Diseases 2012 7:24
  14. We propose the minimal definition of Dercum’s disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum’s disease include fatty deposits, eas...

    Authors: Emma Hansson, Henry Svensson and Håkan Brorson
    Citation: Orphanet Journal of Rare Diseases 2012 7:23
  15. Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I...

    Authors: 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-Verónica Muñoz Rojas, Gregory M Pastores, Julian A Raiman, Maurizio Scarpa, Eileen P Treacy, Anna Tylki-Szymanska, J Edmond Wraith, Jiri Zeman…
    Citation: Orphanet Journal of Rare Diseases 2012 7:22
  16. Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the...

    Authors: 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…
    Citation: Orphanet Journal of Rare Diseases 2012 7:21
  17. Behçet disease (BD) is a chronic, relapsing, multisystemic disorder characterized by mucocutaneous, ocular, vascular and central nervous system manifestations.

    Authors: David Saadoun and Bertrand Wechsler
    Citation: Orphanet Journal of Rare Diseases 2012 7:20
  18. Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, c...

    Authors: Thomas Eggermann, Andreas Venghaus and Klaus Zerres
    Citation: Orphanet Journal of Rare Diseases 2012 7:19
  19. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subt...

    Authors: 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…
    Citation: Orphanet Journal of Rare Diseases 2012 7:18
  20. Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics.

    Authors: Pilar Giraldo, Pilar Alfonso, Pilar Irún, Laura Gort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg, Clara M Sá Miranda and Miguel Pocovi
    Citation: Orphanet Journal of Rare Diseases 2012 7:17
  21. Pulmonary Langerhans Cell Histiocytosis (PLCH) is a relatively uncommon lung disease that generally, but not invariably, occurs in cigarette smokers. The pathologic hallmark of PLCH is the accumulation of Lang...

    Authors: Harpreet S Suri, Eunhee S Yi, Gregorz S Nowakowski and Robert Vassallo
    Citation: Orphanet Journal of Rare Diseases 2012 7:16
  22. Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier scre...

    Authors: Stephanie Shifra Weinreich, Tessel Rigter, Carla Geertruida van El, Wybo Jan Dondorp, Pieter Johannes Kostense, Ans T van der Ploeg, Arnold JJ Reuser, Martina Cornelia Cornel and Marloes Louise Catharina Hagemans
    Citation: Orphanet Journal of Rare Diseases 2012 7:15
  23. Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows a be...

    Authors: Virginie Scotet, Ingrid Duguépéroux, Philippe Saliou, Gilles Rault, Michel Roussey, Marie-Pierre Audrézet and Claude Férec
    Citation: Orphanet Journal of Rare Diseases 2012 7:14
  24. Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. D...

    Authors: Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina and Martin Digweed
    Citation: Orphanet Journal of Rare Diseases 2012 7:13
  25. Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects...

    Authors: Marie-Christine Vantyghem, Dries Dobbelaere, Karine Mention, Jean-Louis Wemeau, Jean-Marie Saudubray and Claire Douillard
    Citation: Orphanet Journal of Rare Diseases 2012 7:11
  26. Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions. A skewing in ...

    Authors: Ettore Salsano, Silvia Tabano, Silvia M Sirchia, Patrizia Colapietro, Barbara Castellotti, Cinzia Gellera, Marco Rimoldi, Viviana Pensato, Caterina Mariotti, Davide Pareyson, Monica Miozzo and Graziella Uziel
    Citation: Orphanet Journal of Rare Diseases 2012 7:10
  27. Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. ...

    Authors: Sarah C Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K Otfried Schwab, Jerry Vockley, Willy Lehnert and Regina Ensenauer
    Citation: Orphanet Journal of Rare Diseases 2012 7:9
  28. Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So far, mutation detection was mainly performed by A...

    Authors: 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 and Christina Zeitz
    Citation: Orphanet Journal of Rare Diseases 2012 7:8
  29. Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.

    Authors: 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 and Lidia Larizza
    Citation: Orphanet Journal of Rare Diseases 2012 7:7
  30. Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due ...

    Authors: Lisbeth Birk 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 and Thomas G Jensen
    Citation: Orphanet Journal of Rare Diseases 2012 7:6
  31. Premature ovarian failure (POF) is a complex and heterogeneous disorder that is influenced by multiple genetic components. Numerous candidate gene studies designed to identify POF susceptibility loci have been...

    Authors: Yingying Qin, Mei Sun, Li You, Deying Wei, Jielin Sun, Xiaoyan Liang, Bo Zhang, Hong Jiang, Jianfeng Xu and Zi-Jiang Chen
    Citation: Orphanet Journal of Rare Diseases 2012 7:5
  32. Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, ...

    Authors: 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…
    Citation: Orphanet Journal of Rare Diseases 2012 7:4
  33. Gastric lactobezoar, a pathological conglomeration of milk and mucus in the stomach of milk-fed infants often causing gastric outlet obstruction, is a rarely reported disorder (96 cases since its first descrip...

    Authors: Peter Heinz-Erian, Ingmar Gassner, Andreas Klein-Franke, Veronika Jud, Rudolf Trawoeger, Christian Niederwanger, Thomas Mueller, Bernhard Meister and Sabine Scholl-Buergi
    Citation: Orphanet Journal of Rare Diseases 2012 7:3
  34. Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and dis...

    Authors: Pilar L Magoulas and Ayman W El-Hattab
    Citation: Orphanet Journal of Rare Diseases 2012 7:2
  35. Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs ...

    Authors: Juan A Tovar
    Citation: Orphanet Journal of Rare Diseases 2012 7:1
  36. Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are availab...

    Authors: Francesca Punzo, Aida M Bertoli-Avella, Saverio Scianguetta, Fulvio Della Ragione, Maddalena Casale, Luisa Ronzoni, Maria D Cappellini, Gianluca Forni, Ben A Oostra and Silverio Perrotta
    Citation: Orphanet Journal of Rare Diseases 2011 6:89
  37. Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. The hearing...

    Authors: Freya KR Swinnen, Paul J Coucke, Anne M De Paepe, Sofie Symoens, Fransiska Malfait, Filomena V Gentile, Luca Sangiorgi, Patrizia D'Eufemia, Mauro Celli, Ton JTM Garretsen, Cor WRJ Cremers, Ingeborg JM Dhooge and Els MR De Leenheer
    Citation: Orphanet Journal of Rare Diseases 2011 6:88
  38. The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored...

    Authors: Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier and Marc Ferré
    Citation: Orphanet Journal of Rare Diseases 2011 6:87
  39. Nephropathic cystinosis is an autosomal recessive disorder resulting in an impaired transport of cystine trough the lysosomal membrane causing an accumulation of free cystine in lysosomes. The only specific tr...

    Authors: Naïm Bouazza, Jean-Marc Tréluyer, Chris Ottolenghi, Saik Urien, Georges Deschenes, Daniel Ricquier, Patrick Niaudet and Bernadette Chadefaux-Vekemans
    Citation: Orphanet Journal of Rare Diseases 2011 6:86
  40. Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region...

    Authors: Kristy Damjanovich, Carmen Langa, Francisco J Blanco, Jamie McDonald, Luisa M Botella, Carmelo Bernabeu, Whitney Wooderchak-Donahue, David A Stevenson and Pinar Bayrak-Toydemir
    Citation: Orphanet Journal of Rare Diseases 2011 6:85
  41. This study was conducted to identify potential biomarkers that could be used to evaluate disease progression and monitor responses to enzyme replacement therapy (ERT) in patients with mucopolysaccharidosis (MP...

    Authors: Lisa Martell, Kelly Lau, Miranda Mei, Vicki Burnett, Celeste Decker and Erik D Foehr
    Citation: Orphanet Journal of Rare Diseases 2011 6:84
  42. Vinblastine (VBL) is the standard treatment for systemic Langerhans cell histiocytosis (LCH), but little is known about its efficacy in central nervous system (CNS) mass lesions.

    Authors: Sophie Ng Wing Tin, Nadine Martin-Duverneuil, Ahmed Idbaih, Catherine Garel, Maria Ribeiro, Judith Landman Parker, Anne-Sophie Defachelles, Anne Lambilliotte, Mohamed Barkaoui, Martine Munzer, Martine Gardembas, Jean Sibilia, Patrick Lutz, Renato Fior, Michel Polak, Alain Robert…
    Citation: Orphanet Journal of Rare Diseases 2011 6:83
  43. Before the concept of autoimmune pancreatitis (AIP) was established, this form of pancreatitis had been recognized as lymphoplasmacytic sclerosing pancreatitis or non-alcoholic duct destructive chronic pancrea...

    Authors: Yoh Zen, Dimitrios P Bogdanos and Shigeyuki Kawa
    Citation: Orphanet Journal of Rare Diseases 2011 6:82
  44. A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the ...

    Authors: Nicolas Leboulanger and Eréa-Noël Garabédian
    Citation: Orphanet Journal of Rare Diseases 2011 6:81
  45. Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification ...

    Authors: Robert J Pignolo, Eileen M Shore and Frederick S Kaplan
    Citation: Orphanet Journal of Rare Diseases 2011 6:80
  46. Anderson's Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of c...

    Authors: Tomoo Okada, Michio Miyashita, Junji Fukuhara, Masahiko Sugitani, Takahiro Ueno, Marie-Elisabeth Samson-Bouma and Lawrence P Aggerbeck
    Citation: Orphanet Journal of Rare Diseases 2011 6:78
  47. A multidisciplinary outpatient department was set up in the northern part of the Netherlands because of a local lack of adequate treatment and care for Huntington's disease (HD)patients. Outreaching multidisci...

    Authors: Ruth B Veenhuizen, Branda Kootstra, Wilma Vink, Janneke Posthumus, Pleuntje van Bekkum, Margriet Zijlstra and Jelleke Dokter
    Citation: Orphanet Journal of Rare Diseases 2011 6:77
  48. The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a het...

    Authors: Aleksandra Szczawinska-Poplonyk, Zdzislawa Kycler, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Anna Breborowicz and Karolina Gerreth
    Citation: Orphanet Journal of Rare Diseases 2011 6:76