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PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e52512
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, pp. 167 - 41
Journal Article
by Pañeda, A and Jiménez, I and Berlanga, A and Mork, A and Gaspar, B and Chuah, M K and Sgodda, M and Eggenschwiler, R and Möbus, S and Hoepfner, J and Kleinsorge, M and Papp, O and Sharma, A D and Broccoli, V and Broccoli, V and Tesar, P J and Dick, J E and De Luca, M and Birket, M and Meer, Bvan and Ribeiro, M and Passier, R and Bellin, M and Orlova, V and Davis, R and Freund, C and Kosmidis, G and Tertoolen, L and Giacca, M and Giacca, M and Goyenvalle, A and Leumann, C and Testa, G and Nehar, D and Courau, T and Qasim, W and Qasim, W and Sommermeyer, D and Liu, L and Maloney, D and Turtle, C and Maude, S L and Barrett, D M and Shaw, P A and Brogdon, J and Young, R and Marcucci, K T and Levine, B L and Frey, N and Porter, D L and Lacey, S F and Melenhorst, J J and Grupp, S A and Bonini, C and Friedmann-Morvinski, D and Soda, Y and Rommel, A and Myskiw, C and Kohn, D B and Wu, C and Espinoza, D A and Koelle, S J and Yang, D and Schlums, H and Kaur, A and Hammer, Q and Childs, R W and Romagnani, C and Bryceson, Y T and Scala, S and Scala, S and Scala, S and Pellin, D and Basso-Ricci, L and Basso-Ricci, L and Dionisio, F and Dionisio, F and Dionisio, F and Baricordi, C and Leonardelli, L and Leonardelli, L and Scaramuzza, S and Ferrua, F and Cicalese, M P and Giannelli, S and Giannelli, S and Neduva, V and Dow, D J and Roncarolo, M G and Ciceri, F and Ciceri, F and Vicard, P and Wit, E and Di Serio, C and Bonini, C and Naldini, L and Aiuti, A and Nelson, C E and Robinson-Hamm, J N and Bacchetta, Rosa and ...
Human Gene Therapy, ISSN 1043-0342, 11/2016, Volume 27, Issue 11, pp. A1 - A185
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2009, Volume 19, Issue 7, pp. 458 - 461
Journal Article
by De Benedetti, F and Anton, J and Gattorno, M and Lachmann, H and Kone-Paut, I and Ozen, S and Frenkel, J and Simon, A and Zeft, A and Ben-Chetrit, E and Hoffman, H. M and Joubert, Y and Lheritier, K and Speziale, A and Guido, J and Caorsi, Roberta and Penco, Federica and Grossi, Alice and Insalaco, Antonella and Alessio, Maria and Conti, Giovanni and Marchetti, Federico and Tommasini, Alberto and Martino, Silvana and Gallizzi, Romina and Salis, Annalisa and Schena, Francesca and Caroli, Francesco and Martini, Alberto and Damonte, Gianluca and Ceccherini, Isabella and Gattorno, Marco and Frémond, Marie-Louise and Uggenti, Carolina and Van Eyck, Lien and Melki, Isabelle and Duffy, Darragh and Bondet, Vincent and Rose, Yoann and Neven, Bénédicte and Crow, Yanick and Rodero, Mathieu P and Kusche, Yvonne and Roth, Johannes and Barczyk-Kahlert, Katarzyna and Ferrara, Giovanna and Chiocchetti, Annalisa and Polizzi, Silvio and Vuch, Josef and Vozzi, Diego and Mondino, Anna and Valencic, Erica and Pastore, Serena and Taddio, Andrea and Faletra, Flavio and Dianzani, Umberto and Ramenghi, Ugo and Zhou, Qing and Yu, Xiaomin and Demirkaya, Erkan and Deuitch, Natalie and Stone, Deborah and Tsai, Wanxia and Ombrello, Amanda and Romeo, Tina and Remmers, Elaine F and Chae, JaeJin and Gadina, Massimo and Welch, Steven and Ozen, Seza and Topaloglu, Rezan and Abinun, Mario and Kastner, Daniel L and Aksentijevich, Ivona and Vairo, Donatella and Ferraro, Rosalba Monica and Zani, Giulia and Galli, Jessica and De Simone, Micaela and Cattalini, Marco and Fazzi, Elisa and Giliani, Silvia and Omoyinmi, Ebun and Standing, Ariane and Rowczenio, Dorota and Keylock, Annette and Gomes, Sonia Melo and Price-Kuehne, Fiona and Nanthapisal, Sira and Murphy, Claire and Cullup, Thomas and Jenkins, Lucy and Gilmour, Kimberly and Eleftheriou, Despina and Lachmann, Helen and Hawkins, Philip and Klein, Nigel and Brogan, Paul and Dhanrajani, Anita and Chan, Mercedes and ... and On Behalf of the British Society for Paediatric and Adolescent Rheumatology and For the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR) and on behalf of ENCA and on behalf of EUROFEVER PROJECT and Working Group “Juvenile Dermatomyositis” of the German Society for Paediatric and Adolescent Rheumatology (GKJR) and Acute-JIA Study Group and ReACCh-Out Investigators and on behalf of Eurofever Registry and EPOCA Study Group and Board of the Swedish Pediatric Rheumatology Registry and GRIP study group and on behalf of PRINTO and Eurofever registry and International Childhood Arthritis Genetics (INCHARGE) Consortium and PRINTO/PRCSG and For Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology Collaborative Study Group (PRCSG) and on behalf of Dutch JIA patient organization and Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh and ICON study group and BIKER collaborative group and Working Group of Behçet’s Disease, Pediatric Rheumatology Association of Japan (PRAJ) and CAPS and on behalf of ReACCh-Out Investigators and GENIAL Investigators, UK JSLE Study Group and Juvenile Dermatomyositis Cohort and Biomarker Study (JCDBS) and Juvenile Dermatomyositis Research Group (JDRG)
Pediatric Rheumatology, ISSN 1546-0096, 05/2017, Volume 15, Issue S1
Journal Article
by F. De Benedetti and J. Anton and M. Gattorno and H. Lachmann and I. Kone-Paut and S. Ozen and J. Frenkel and A. Simon and A. Zeft and E. Ben-Chetrit and H. M. Hoffman and Y. Joubert and K. Lheritier and A. Speziale and J. Guido and Roberta Caorsi and Federica Penco and Alice Grossi and Antonella Insalaco and Maria Alessio and Giovanni Conti and Federico Marchetti and Alberto Tommasini and Silvana Martino and Romina Gallizzi and Annalisa Salis and Francesca Schena and Francesco Caroli and Alberto Martini and Gianluca Damonte and Isabella Ceccherini and Marco Gattorno and Marie-Louise Frémond and Carolina Uggenti and Lien Van Eyck and Isabelle Melki and Darragh Duffy and Vincent Bondet and Yoann Rose and Bénédicte Neven and Yanick Crow and Mathieu P. Rodero and Yvonne Kusche and Johannes Roth and Katarzyna Barczyk-Kahlert and Giovanna Ferrara and Annalisa Chiocchetti and Silvio Polizzi and Josef Vuch and Diego Vozzi and Anna Mondino and Erica Valencic and Serena Pastore and Andrea Taddio and Flavio Faletra and Umberto Dianzani and Ugo Ramenghi and Alberto Tommasini and Qing Zhou and Xiaomin Yu and Erkan Demirkaya and Natalie Deuitch and Deborah Stone and Wanxia Tsai and Amanda Ombrello and Tina Romeo and Elaine F. Remmers and JaeJin Chae and Massimo Gadina and Steven Welch and Seza Ozen and Rezan Topaloglu and Mario Abinun and Daniel L. Kastner and Ivona Aksentijevich and Donatella Vairo and Rosalba Monica Ferraro and Giulia Zani and Jessica Galli and Micaela De Simone and Marco Cattalini and Elisa Fazzi and Silvia Giliani and Ebun Omoyinmi and Ariane Standing and Dorota Rowczenio and Annette Keylock and Sonia Melo Gomes and Fiona Price-Kuehne and Sira Nanthapisal and Claire Murphy and Thomas Cullup and Lucy Jenkins and Kimberly Gilmour and Despina Eleftheriou and Helen Lachmann and Philip Hawkins and Nigel Klein and Paul Brogan and Anita Dhanrajani and ...
Pediatric Rheumatology Online Journal, 05/2017, Volume 15, Issue S1, pp. 1 - 104
Journal Article
Journal Article
NATURE MEDICINE, ISSN 1078-8956, 07/2018, Volume 24, Issue 7, pp. 1024 - 1024
Journal Article
by Tan, IB and Chang, Ellen T and Chen, Chien-Jen and Hsu, Wan-Lun and Chien, Yin-Chu and Hildesheim, Allan and McKay, James D and Gaborieau, Valerie and Kaderi, Mohamed Arifin Bin and Purnomosari, Dewajani and Voegele, Catherine and LeCalvez-Kelm, Florence and Byrnes, Graham and Brennan, Paul and Devi, Beena and Li, L and Zhang, Y and Fan, Y and Sun, K and Du, Z and Sun, H and Chan, A. T and Tsao, S. W and Zeng, Y. X and Tao, Q and Busson, Pierre and Lhuillier, Claire and Morales, Olivier and Mrizak, Dhafer and Gelin, Aurore and Kapetanakis, Nikiforos and Delhem, Nadira and Mansouri, Sheila and Cao, Jennifer and Vaidya, Anup and Frappier, Lori and Wai, Lo Kwok and Chen, Sui-Hong and Du, Jin-lin and Ji, Ming-Fang and Huang, Qi-Hong and Liu, Qing and Cao, Su-Mei and Doolan, Denise L and Coghill, Anna and Mulvenna, Jason and Proietti, Carla and Lekieffre, Lea and Bethony, Jeffrey and Hildesheim, and Allan and Fles, Renske and Indrasari, Sagung Rai and Herdini, Camelia and Martini, Santi and Isfandiari, Atoillah and Rhomdoni, Achmad and Adham, Marlinda and Mayangsari, Ika and van Werkhoven, Erik and Wildeman, Maarten and Hariwiyanto, Bambang and Hermani, Bambang and Kentjono, Widodo Ario and Haryana, Sofia Mubarika and Schmidt, Marjanka and O’Sullivan, Brian and Ozyar, Enis and Lee, Anne W. M and Zeng, Mu-Sheng and Gao, Xiaojiang and Tang, Minzhong and Martin, Pat and Zeng, Yi and Carrington, Mary and Coghill, Anna E and Bu, Wei and Nguyen, Hanh and Yu, Kelly J and Lou, Pei-Jen and Wang, Cheng-Ping and Cohen, Jeffrey I and King, Ann D and Chen, Tseng-Cheng and Lin, Ching-Yuan and Tsou, Yung-An and Leu, Yi-Shing and Laio, Li-Jen and Chang, Yen-Liang and Hua, Chun-Hun and Wu, Ming-Shiang and Hsiao, Chu-Hsing Kate and Lee, Jehn-Chuan and Tsai, Ming-Hsui and Cheng, Skye Hung-Chun and Liao, Li-Jen and Yang, Tsung-Lin and Ko, Jenq-Yuh and Ko, Josephine Mun Yee and Dai, Wei and Kwong, Dora and ...
BMC Proceedings, ISSN 1753-6561, 04/2016, Volume 10, Issue S1
  A1 Hope and despair in the current treatment of nasopharyngeal cancer IB Tan I1 NPC international incidence and risk factors Ellen T Chang I2 Familial... 
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 01/2010, Volume 285, Issue 2, pp. 1343 - 1357
Journal Article