Journal of Genetic Syndromes & Gene Therapy
Open Access

2^nd World Congress on Rare Diseases and Orphan Drugs

June 29-30, 2017 London, UK

Posters & Accepted Abstracts

• Patients without diagnosis: A profile

  Isabelle C Windheuser, Martin Muecke, Frank Klawonn and Christiane Stieber

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• Interdisciplinary competence unit for patients without diagnosis

  Larissa Wester, Christiane Stieber, Martin Muecke, Isabelle C Windheuser and Thomas Klockgether

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• Sclerosing angiomatoid nodular transformation of the spleen: An unusual finding in paediatric population

  Godwin Oligbu, Indula Bopitiya, Praveen Saroey and Atra Ayad

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• The prevalence of rare diseases in the population of hospitalized patients

  Karina Levina

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• Rare genetic variation associate with autism spectrum: A brief report

  Thais C Vieira, Marc A D Gigonzac, Irene Plaza Pinto and Aparecido Divino da Cruz

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• From promising molecules to orphan drugs: Early clinical drug development

  Dooms M

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• Study of rare disease utilizing bioinformatics approach

  Weida Tong

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• Rapid progression osteolysis in Gorham Stout Syndrome: A case report and literature review

  Leonardo Cano Cevallos, Ivan Cherrez Ojeda and Andrea Velez Vera

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• Streptococcus suis: Bacteremia presenting with fever, rashes, arthritis and neurologic deficits

  Ahmad M Domado and Jill Itable

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• 45,X/46,X,i (X) (q10) isochromosome Xq in Mosaic Turner syndrome: A case report

  Mark Ramon Victor B Llanes and May Uyking-Naranjo

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• Biochemical and electron microscopic changes induced by Giardia in experimentally infected lambs

  Mervat E I Radwan

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• Prevalence and outcome of treatable lysosomal storage diseases in children from north- eastern part of Libya

  Nuri M Shembesh, Abdulsallam A Shakmak, Fauzia Fazani, Amal Elwarfale and Salma Elaubedee

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• Four rare neurogenetic disorders: Underlying mechanisms and management

  William S Baek

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• The safety and efficacy of prednisolone in preventing re-accumulation of ascites among endomyocardial fibrosis patients in Uganda: A randomised clinical trial

  Yvonne Brenda Nabunnya, James Kayima, Juergen Freers, Chris T Longenecker and Richard A Josephson

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