publication . Article . Other literature type . 2016

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo-Graovac; Casper Shyr; Colin J. Ross; Gabriella A. Horvath; Ramona Salvarinova; Xin C. Ye; Lin-Hua Zhang; Amit P. Bhavsar; Jessica J.Y. Lee; Britt I. Drögemöller; ...
Open Access English
  • Published: 09 Jun 2016
Abstract
<p>BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular level.</p><p>METHODS: To uncover the genetic basis of potentially treatable inborn errors of metabolism, we combined deep clinical phenotyping (the comprehensive characterization of the discrete components of a patient's clinical and biochemical phenotype) with whole-exom...
Subjects
free text keywords: Medical Clinic, 610 Medicine & health, Article, Proband, Genetic testing, medicine.diagnostic_test, medicine, business.industry, business, Genotype, Genetics, Exome sequencing, Surgery, medicine.medical_specialty, Bioinformatics, Intellectual disability, medicine.disease, Exome, Developmental disorder, Phenotype
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publication . Article . Other literature type . 2016

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo-Graovac; Casper Shyr; Colin J. Ross; Gabriella A. Horvath; Ramona Salvarinova; Xin C. Ye; Lin-Hua Zhang; Amit P. Bhavsar; Jessica J.Y. Lee; Britt I. Drögemöller; ...