Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment.

Published in: Ideggyogyaszati szemle (2021)

In our twin patients, severe lung involvement was observed. Two of our four early infantile Niemann-Pick type C patients exhibited neurological gains with miglustat treatment.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis