Area of research
Clinical Biochemistry · Rheumatology
Research interest
Research interests include Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Folate and B Vitamins Research, and Genetics and Neurodevelopmental Disorders.
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder