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  • include
  • Expanded studies include individuals with MECP2 Duplication disorder, and RTT-related disorders including individuals with MECP2 mutations, but not meeting obligatory criteria for the diagnosis of RTT and individuals with mutations in CDKL5 and FOXG1 some of whom meet criteria for atypical RTT. (clinicaltrials.gov)
  • Complications
  • OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory cytokines and for the production of nitric oxide by alveolar macrophages to identify possible risk factors for pulmonary complications. (clinicaltrials.gov)
  • hereditary
  • The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma , infection , poisoning (e.g., lead poisoning ) or reaction to pharmaceutical drugs , particularly neuroleptics . (readtiger.com)
  • include
  • Treatment includes vitamin E. Characteristics of the syndrome include the presence of acanthocytes (burr-cell malformation of the erythrocytes), and the reduction or even absence of B-lipoproteins. (wikipedia.org)
  • mental
  • RTT is a neurodevelopmental disorder characterized by apparently normal early development followed by loss of purposeful hand use, distinctive hand stereotypies, slowed brain growth, loss of language, respiratory irregularities, GI disturbances, gait abnormalities, seizures, and mental retardation. (clinicaltrials.gov)
  • Greater than 200 CGG copies results in Fragile X Syndrome (FXS), the most common form of heritable mental retardation. (clinicaltrials.gov)
  • Study
  • This study will evaluate the safety and effectiveness of methylphenidate in treating attention deficit hyperactivity disorder in children with both attention deficit hyperactivity disorder and Tourette syndrome. (clinicaltrials.gov)