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  1. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal scr...

    Authors: Catharina ML Touw, G Peter A Smit, Klary E Niezen-Koning, Conny Bosgraaf-de Boer, Albert Gerding, Dirk-Jan Reijngoud and Terry GJ Derks

    Citation: Orphanet Journal of Rare Diseases 2013 8:43

    Content type: Research

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  2. Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulat...

    Authors: Young Bae Sohn, Sung Yoon Cho, Sung Won Park, Su Jin Kim, Ah-Ra Ko, Eun-Kyung Kwon, Sun Ju Han and Dong-Kyu Jin

    Citation: Orphanet Journal of Rare Diseases 2013 8:42

    Content type: Research

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  3. Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. Here we aimed to enlarg...

    Authors: Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn, Jan Senderek, Karl-Titus Hoffmann, Patrick MacLeod, Johannes Schwarz, Benjamin Bender, Stefan Krüger…

    Citation: Orphanet Journal of Rare Diseases 2013 8:41

    Content type: Research

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  4. Pulmonary alveolar proteinosis (PAP) is a term defining an ultra-rare group of disorders characterised by a perturbation in surfactant homeostasis, resulting in its accumulation within airspaces and impaired g...

    Authors: Ilaria Campo, Francesca Mariani, Giuseppe Rodi, Elena Paracchini, Eric Tsana, Davide Piloni, Isabella Nobili, Zamir Kadija, Angelo Corsico, Isa Cerveri, Claudia Chalk, Bruce C Trapnell, Antonio Braschi, Carmine Tinelli and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2013 8:40

    Content type: Research

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  5. Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information...

    Authors: Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O’Hara, Leo Ruiz Casas and Fiona M Smith

    Citation: Orphanet Journal of Rare Diseases 2013 8:38

    Content type: Research

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  6. Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a...

    Authors: Serwet Demirdas, Imke N van Kessel, Marjolein J Korndewal, Carla EM Hollak, Hanka Meutgeert, Anja Klaren, Margreet van Rijn, Francjan J van Spronsen and Annet M Bosch

    Citation: Orphanet Journal of Rare Diseases 2013 8:37

    Content type: Letter to the Editor

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  7. Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, ...

    Authors: Smail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard, Julie De Backer, Fransiska Malfait, Olivier M Vanakker, Paul J Coucke, Anne M De Paepe and Christine Bodemer

    Citation: Orphanet Journal of Rare Diseases 2013 8:36

    Content type: Research

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  8. The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of ...

    Authors: Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S Ory, Eugen Mengel, Christine Fischer and Heiko Runz

    Citation: Orphanet Journal of Rare Diseases 2013 8:35

    Content type: Research

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  9. Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other...

    Authors: Natascha Bergamin, Andrea Dardis, Antonio Beltrami, Daniela Cesselli, Silvia Rigo, Stefania Zampieri, Rossana Domenis, Bruno Bembi and Carlo Alberto Beltrami

    Citation: Orphanet Journal of Rare Diseases 2013 8:34

    Content type: Research

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  10. The biology of small cell ovarian carcinoma of the hypercalcemic type (SCCOHT), which is a rare and aggressive form of ovarian cancer, is poorly understood. Tumourigenicity, in vitro growth characteristics, genet...

    Authors: Lisa F Gamwell, Karen Gambaro, Maria Merziotis, Colleen Crane, Suzanna L Arcand, Valerie Bourada, Christopher Davis, Jeremy A Squire, David G Huntsman, Patricia N Tonin and Barbara C Vanderhyden

    Citation: Orphanet Journal of Rare Diseases 2013 8:33

    Content type: Research

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  11. Chronic lymphocytic leukemia (CLL) is a slowly progressing but fatal disease that imposes a high economic burden on sickness funds and society. The objective of this study was to analyze and compare the direct...

    Authors: Carl Rudolf Blankart, Taika Koch, Roland Linder, Frank Verheyen, Jonas Schreyögg and Tom Stargardt

    Citation: Orphanet Journal of Rare Diseases 2013 8:32

    Content type: Research

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  12. Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and vari...

    Authors: Yukio Ando, Teresa Coelho, John L Berk, Márcia Waddington Cruz, Bo-Göran Ericzon, Shu-ichi Ikeda, W David Lewis, Laura Obici, Violaine Planté-Bordeneuve, Claudio Rapezzi, Gerard Said and Fabrizio Salvi

    Citation: Orphanet Journal of Rare Diseases 2013 8:31

    Content type: Review

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  13. Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease is caused by muta...

    Authors: Sara Luscieti, Gabriele Tolle, Jessica Aranda, Carmen Benet Campos, Frank Risse, Érica Morán, Martina U Muckenthaler and Mayka Sánchez

    Citation: Orphanet Journal of Rare Diseases 2013 8:30

    Content type: Research

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  14. The concept of individual burden, associated with disease, has been introduced recently to determine the “disability” caused by the pathology in the broadest sense of the word (psychological, social, economic,...

    Authors: Hélène Dufresne, Smail Hadj-Rabia, Cécile Méni, Vincent Sibaud, Christine Bodemer and Charles Taïeb

    Citation: Orphanet Journal of Rare Diseases 2013 8:28

    Content type: Research

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  15. Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria. It is caused by mutations in the TA...

    Authors: Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini and Amelia Morrone

    Citation: Orphanet Journal of Rare Diseases 2013 8:27

    Content type: Research

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  16. Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most promi...

    Authors: Maggie C Walter, Peter Reilich, Simone Thiele, Joachim Schessl, Herbert Schreiber, Karlheinz Reiners, Wolfram Kress, Clemens Müller-Reible, Matthias Vorgerd, Peter Urban, Bertold Schrank, Marcus Deschauer, Beate Schlotter-Weigel, Ralf Kohnen and Hanns Lochmüller

    Citation: Orphanet Journal of Rare Diseases 2013 8:26

    Content type: Research

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  17. Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neuro...

    Authors: Valentina Citton, Angela Favaro, Vera Bettini, Joseph Gabrieli, Gabriella Milan, Nella Augusta Greggio, Jan D Marshall, Jürgen K Naggert, Renzo Manara and Pietro Maffei

    Citation: Orphanet Journal of Rare Diseases 2013 8:24

    Content type: Research

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  18. First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary exc...

    Authors: Sarah LN Clarke, Ann Bowron, Iris L Gonzalez, Sarah J Groves, Ruth Newbury-Ecob, Nicol Clayton, Robin P Martin, Beverly Tsai-Goodman, Vanessa Garratt, Michael Ashworth, Valerie M Bowen, Katherine R McCurdy, Michaela K Damin, Carolyn T Spencer, Matthew J Toth, Richard I Kelley…

    Citation: Orphanet Journal of Rare Diseases 2013 8:23

    Content type: Review

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  19. Families of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and exte...

    Authors: Matilda Anderson, Elizabeth J Elliott and Yvonne A Zurynski

    Citation: Orphanet Journal of Rare Diseases 2013 8:22

    Content type: Research

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  20. Congenital Hyperinsulinism is a condition with a number of genetic causes, but for the majority of patients, the underlying aetiology is unknown. We present here a rational argument for the use of computationa...

    Authors: Adam Stevens, Karen E Cosgrove, Raja Padidela, Mars S Skae, Peter E Clayton, Indraneel Banerjee and Mark J Dunne

    Citation: Orphanet Journal of Rare Diseases 2013 8:21

    Content type: Letter to the Editor

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  21. CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP)...

    Authors: Marta Corton, Sorina D Tatu, Almudena Avila-Fernandez, Elena Vallespín, Ignacio Tapias, Diego Cantalapiedra, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Sara Bernal, Blanca García-Sandoval, Montserrat Baiget and Carmen Ayuso

    Citation: Orphanet Journal of Rare Diseases 2013 8:20

    Content type: Research

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  22. To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations.

    Authors: Filippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini and Alessandro Simonati

    Citation: Orphanet Journal of Rare Diseases 2013 8:19

    Content type: Research

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  23. Neuro-Behçet’s disease (NBD) involves the central nervous system; peripheral nervous system involvement is not often reported. NBD is quite common in adult patients and occurs rarely during childhood and adole...

    Authors: Paolo Mora, Chiara Menozzi, Jelka G Orsoni, Pierangela Rubino, Livia Ruffini and Arturo Carta

    Citation: Orphanet Journal of Rare Diseases 2013 8:18

    Content type: Review

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  24. Bullous pemphigoid is a subepidermal blistering disorder associated with tissue-bound and circulating autoantibodies directed mainly to the hemidesmosomal component collagen XVII. While recapitulating the main...

    Authors: Mircea Teodor Chiriac, Emilia Licarete, Alexandra Gabriela Sas, Andreea Maria Rados, Iulia Lupan, Anca Mirela Chiriac, Hilda Speth, Vlad Pop-Vancia, Iacob Domsa, Alina Sesarman, Octavian Popescu and Cassian Sitaru

    Citation: Orphanet Journal of Rare Diseases 2013 8:17

    Content type: Research

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  25. Inherited retinal dystrophies, including Retinitis Pigmentosa and Leber Congenital Amaurosis among others, are a group of genetically heterogeneous disorders that lead to variable degrees of visual deficits. T...

    Authors: Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, Anna Maria Barbarulo, Vincenzo Nigro, Mariarosa AB Melone, Francesca Simonelli and Sandro Banfi

    Citation: Orphanet Journal of Rare Diseases 2013 8:16

    Content type: Research

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  26. Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce.

    Authors: Huiwen Zhang, Yu Wang, Zhuwen Gong, Xiaoyan Li, Wenjuan Qiu, Lianshu Han, Jun Ye and Xuefan Gu

    Citation: Orphanet Journal of Rare Diseases 2013 8:15

    Content type: Research

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  27. Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal sig...

    Authors: Shinsuke Fujioka, Christina Sundal and Zbigniew K Wszolek

    Citation: Orphanet Journal of Rare Diseases 2013 8:14

    Content type: Review

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  28. Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynt...

    Authors: Michela Barbaro, Maire Kotajärvi, Pauline Harper and Ylva Floderus

    Citation: Orphanet Journal of Rare Diseases 2013 8:13

    Content type: Research

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  29. Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. We report data recorded at enrolment in an ongoing international NP-C regi...

    Authors: Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara Schwierin, Harir Drevon, Marie T Vanier and Mercé Pineda

    Citation: Orphanet Journal of Rare Diseases 2013 8:12

    Content type: Research

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    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2013 8:73

  30. Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome...

    Authors: Heidi M Sampson, Hung Lam, Pei-Chun Chen, Donglei Zhang, Cristina Mottillo, Myriam Mirza, Karim Qasim, Alvin Shrier, Show-Ling Shyng, John W Hanrahan and David Y Thomas

    Citation: Orphanet Journal of Rare Diseases 2013 8:11

    Content type: Research

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  31. Malignant atrophic papulosis (MAP), described independently by Köhlmeier and Degos et al., is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-whi...

    Authors: Athanasios Theodoridis, Evgenia Makrantonaki and Christos C Zouboulis

    Citation: Orphanet Journal of Rare Diseases 2013 8:10

    Content type: Review

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  32. Cockayne Syndrome CS (Type A – CSA; or CS Type I OMIM #216400) (Type B – CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by pro...

    Authors: Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus and Vincent Laugel

    Citation: Orphanet Journal of Rare Diseases 2013 8:9

    Content type: Research

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  33. The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In ...

    Authors: Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell and Ute Spiekerkötter

    Citation: Orphanet Journal of Rare Diseases 2013 8:8

    Content type: Review

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  34. Deregulation of microRNA (miRNA) transcript levels has been observed in many types of tumors including osteosarcoma. Molecular pathways regulated by differentially expressed miRNAs may contribute to the hetero...

    Authors: Aaron L Sarver, Venugopal Thayanithy, Milcah C Scott, Anne-Marie Cleton-Jansen, Pancras CW Hogendoorn, Jaime F Modiano and Subbaya Subramanian

    Citation: Orphanet Journal of Rare Diseases 2013 8:7

    Content type: Research

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  35. Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is s...

    Authors: Sarah C Grünert, Stephanie Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A Bodamer, Matthias R Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr…

    Citation: Orphanet Journal of Rare Diseases 2013 8:6

    Content type: Research

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  36. Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated ...

    Authors: Alexandre Fabre, Christine Martinez-Vinson, Olivier Goulet and Catherine Badens

    Citation: Orphanet Journal of Rare Diseases 2013 8:5

    Content type: Review

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  37. Methylmalonic aciduria is an inborn error of metabolism characterized by accumulation of methylmalonate (MMA), propionate and 2-methylcitrate (2-MCA) in body fluids. Early diagnosis and current treatment strat...

    Authors: Paris Jafari, Olivier Braissant, Petra Zavadakova, Hugues Henry, Luisa Bonafé and Diana Ballhausen

    Citation: Orphanet Journal of Rare Diseases 2013 8:4

    Content type: Research

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  38. Nineteen patients with deletions in chromosome 6p22-p24 have been published so far. The syndromic phenotype is varied, and includes intellectual disability, behavioural abnormalities, dysmorphic features and s...

    Authors: Tuva Barøy, Doriana Misceo, Petter Strømme, Asbjørg Stray-Pedersen, Asbjørn Holmgren, Olaug Kristin Rødningen, Anne Blomhoff, Johan Robert Helle, Alice Stormyr, Bjørn Tvedt, Madeleine Fannemel and Eirik Frengen

    Citation: Orphanet Journal of Rare Diseases 2013 8:3

    Content type: Research

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  39. Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two...

    Authors: Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, Bjørn Ivar Haukanes, Cecilie Bredrup, Gesche Neckelmann, Helge Boman, Per Morten Knappskog and Laurence A Bindoff

    Citation: Orphanet Journal of Rare Diseases 2013 8:1

    Content type: Research

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  40. Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which const...

    Authors: Raquel Ma Fernández, Marta Bleda, Rocío Núñez-Torres, Ignacio Medina, Berta Luzón-Toro, Luz García-Alonso, Ana Torroglosa, Martina Marbà, Ma Valle Enguix-Riego, David Montaner, Guillermo Antiñolo, Joaquín Dopazo and Salud Borrego

    Citation: Orphanet Journal of Rare Diseases 2012 7:103

    Content type: Research

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  41. Previous studies have provided equivocal data on the use of miglustat as maintenance therapy in Gaucher disease type 1. We report findings from a clinical trial evaluating the effects of miglustat treatment in...

    Authors: Timothy M Cox, Dominick Amato, Carla EM Hollak, Cecile Luzy, Mariabeth Silkey, Ruben Giorgino and Robert D Steiner

    Citation: Orphanet Journal of Rare Diseases 2012 7:102

    Content type: Research

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  42. The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each...

    Authors: Amanda G Silva, Maria Isabel Waddington Achatz, Ana CV Krepischi, Peter L Pearson and Carla Rosenberg

    Citation: Orphanet Journal of Rare Diseases 2012 7:101

    Content type: Research

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  43. Pathologic studies play an important role in evaluating patients with Alport syndrome besides genotyping. Difficulties still exist in diagnosing Alport syndrome (AS), and misdiagnosis is a not-so-rare event, e...

    Authors: Xiao-dan Yao, Xin Chen, Gao-yuan Huang, Yan-ting Yu, Shu-tian Xu, Yang-lin Hu, Qing-wen Wang, Hui-ping Chen, Cai-hong Zeng, Da-xi Ji, Wei-xin Hu, Zheng Tang and Zhi-hong Liu

    Citation: Orphanet Journal of Rare Diseases 2012 7:100

    Content type: Research

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  44. Diffuse alveolar hemorrhage syndrome is a life threatening condition with diverse etiologies. Sensitive prognostic markers for diffuse alveolar hemorrhage have not been well investigated. Serum KL-6 is a bioma...

    Authors: Yoshiko Kida, Shinichiro Ohshimo, Kohei Ota, Tomoko Tamura, Tadatsugu Otani, Kazunobu Une, Takuma Sadamori, Yasumasa Iwasaki, Francesco Bonella, Noboru Hattori, Nobuyuki Hirohashi, Josune Guzman, Ulrich Costabel, Nobuoki Kohno and Koichi Tanigawa

    Citation: Orphanet Journal of Rare Diseases 2012 7:99

    Content type: Research

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  45. A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...

    Authors: David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli, Vassili Valayannopoulos, Jean-François Benoist, Jean-Marc Pinard, Gilles Simard, Olivier Douay, Kumaran Deiva…

    Citation: Orphanet Journal of Rare Diseases 2012 7:96

    Content type: Research

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