Marie Jackson

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer et al. · Molecular Genetics and Metabolism · 2007 · 155 citations

Medicine, Pathology, Clinical Epidemiology +5

Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

Alisha Wilkens, Hongbin Liu, Kristen Park et al. · American Journal of Medical Genetics Part A · 2012 · 96 citations

Medicine, Pediatrics, Craniofacial Genetics +13

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Jayesh Sheth, Mehul Mistri, Frenny Sheth et al. · JIMD Reports · 2013 · 60 citations

Medicine, Child Health, Pediatrics +17

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1

Hana'a Mohammed Ramadan, A. S. Najim Al-Din, F. Balen et al. · Neurology · 2007 · 56 citations

Medicine, Genetics, Neurology +17

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

Clare Beesley, Marie Jackson, Elisabeth Young et al. · Journal of Inherited Metabolic Disease · 2005 · 51 citations

Life Sciences, Genetics, Molecular Genetics +8