Tajir, Mariam

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients. [electronic resource] - European journal of medical genetics Oct 2012 - 535-40 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2012.06.006 doi


Child
Female
Heterozygote
Humans
Infant, Newborn
Male
Morocco--epidemiology
Mutation, Missense
Pedigree
Pyruvate Dehydrogenase Complex--genetics
Pyruvate Dehydrogenase Complex Deficiency Disease--epidemiology