Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

Authors

Carlos R Ferreira, George Washington UniversityFollow
Joseph M Devaney, George Washington UniversityFollow
Sean E Hofherr
Laura M Pollard
Kristina Cusmano-Ozog, George Washington UniversityFollow

Document Type

Journal Article

Study Type

Case Report

Publication Date

2-1-2017

Journal

American journal of medical genetics. Part A

Volume

173

Issue

2

Inclusive Pages

501-509

DOI

10.1002/ajmg.a.38023

Keywords

Biomarkers; Diagnosis, Differential; Enzyme Activation; Female; Fructose Intolerance; Humans; Infant; Leukocytes; Lysosomes; Mucolipidoses; Phenotype

APA Citation

Ferreira, C., Devaney, J., Hofherr, S., Pollard, L., & Cusmano-Ozog, K. (2017). Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.. American journal of medical genetics. Part A, 173 (2). http://dx.doi.org/10.1002/ajmg.a.38023

Peer Reviewed

1