Title

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

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

Peer Reviewed

1

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