Diagnosis and management of Pompe disease

Abstract

Louisa Bhengu is a medical geneticist in the Department of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa. Alan Davidson is associate professor and Head of the Haematology/Oncology Service, Red Cross War Memorial Children's Hospital and University of Cape Town, South Africa. Paul du Toit is a physician in private practice in Johannesburg, South Africa. Carla Els is a paediatric pulmonologist in private practice in Johannesburg, South Africa. Trevor Gerntholtz is an adult nephrologist in private practice in Johannesburg, South Africa. Kenny Govendrageloo is a paediatric cardiologist in private practice in Johannesburg, South Africa. Bertram Henderson is a senior lecturer in the Department of Human Genetics and Head of the Clinical Unit, Department of Neurology, University of the Free State, Bloemfontein, South Africa. Lawrence Mubaiwa is a paediatric neurologist in the Department of Neurology, University of KwaZulu-Natal, Durban, South Africa. Sheeba Varughese is a paediatrician at the Gaucher and HIV Clinics, University of the Witwatersrand, Johannesburg, South Africa. The authors comprise the Lysosomal Storage Disorder Medical Advisory Board, South Africa.