P M Cox
Affiliation: Imperial College School of Medicine
- Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosisP M Cox
Division of Investigative Science, Imperial College School of Medicine, London, United Kingdom
Am J Med Genet 86:187-93. 1999..Enzyme studies of fibroblasts from the 3rd fetus showed deficient activity of glycogen brancher enzyme, indicating that this is a new, severe form of glycogenosis type IV with onset in the early second trimester...