Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.

Background: Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy. Its prevalence ranges between 1/9000 and 1/40,000. It is caused by compound heterozygous or homozygous mutations in the GAA gene, which encodes for the lysosomal enzyme alpha-glucosidase, required for the degrading of lysosomal glycogen.

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes of cardiomyopathy in a systematic and unbiased manner.

The Boy from Fez: A tale of five charities, and the global community, joining hands.

A case study in global cooperation between multiple charities and cardiac centers helped to save a 8-year-old Moroccan boy suffering a case of Laubry-Pezzi syndrome with severe aortic regurgitation and ventricular septal defect. His recuperation was aided by the support of communities in both Morocco and Qatar.

Congenital rubella syndrome burden in Morocco: a rapid retrospective assessment.

Background: WHO recommends that countries considering introduction of rubella vaccine into their immunisation programme assess their burden of congenital rubella syndrome, to determine whether vaccination is warranted. However, few guidelines exist for such assessments in developing countries. We retrospectively estimated the burden of congenital rubella syndrome in Morocco, and assessed our methods of rapid case finding.