Honjo, Rachel Sayuri

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation. [electronic resource] - BMC medical genetics 02 2020 - 37 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1471-2350

10.1186/s12881-020-0972-y doi


Ascites
Brazil--epidemiology
Disease Progression
Heart--diagnostic imaging
Heart Failure--diagnosis
Humans
Infant
Male
Mucopolysaccharidosis VI--diagnostic imaging
Mutation
N-Acetylgalactosamine-4-Sulfatase--genetics
Phenotype