Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum-Reference-Cited by-同舟云学术

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

Published:2016-10-31 Issue:2 Volume:173 Page:501-509
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ferreira Carlos R.¹²,Devaney Joseph M.³,Hofherr Sean E.³,Pollard Laura M.⁴,Cusmano-Ozog Kristina²³

Affiliation:

1. National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

2. Division of Genetics and Metabolism; Children's National Health System; Washington District Of Columbia

3. Division of Laboratory Medicine; Children's National Health System; Washington District Of Columbia

4. Biochemical Genetics Laboratory; Greenwood Genetic Center; Greenwood South Carolina

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38023/fullpdf

Reference54 articles.

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2. Hereditary fructose intolerance in early childhood: A major diagnostic challenge. Survey of 20 symptomatic cases;Baerlocher;Helv Paediatr Acta,1978

3. Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency);Barone;J Inherit Metab Dis,1998

4. Beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I;Beccari;Clin Chim Acta,2000

5. Arysulfatase and beta-glucuronidase activity in serum in kwashiorkor;Begum;Clin Chim Acta,1970

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