Area of research
Clinical Biochemistry · Biochemistry
Research interest
Research interests include Medicine, Pediatrics, Human genetics, Microcephaly, Cobalamin, and Methylenetetrahydrofolate reductase.
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency