ArticleJournal of inherited metabolic disease1998
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).
Article in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 33 citations in OpenAlex.
- GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.Journal of inherited metabolic disease · 2026Article
- Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (Biomedical reports · 2025Article
- 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 · 2017Review
- Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Serum N-acetyl-beta-D-glucosaminidase profiles in type 1 diabetes secondary complications: causes of changes and significance of determination.Journal of clinical laboratory analysis · 2008Article
- Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.Journal of inherited metabolic disease · 2005Article
- Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).Journal of inherited metabolic disease · 2003Article
- Carbohydrate-deficient glycoprotein syndromes.Postgraduate medical journal · 2000Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
From 10 patients with carbohydrate-deficient glycoprotein (CDG) syndrome due to phosphomannomutase (PMM) deficiency, out of 10 lysosomal enzymes, 7 enzyme activities were measured in serum and 9 in leukocytes. In serum there was a 2-fold to 4-fold increase in activity of beta-glucuronidase, beta-hexosaminidase, beta-galactosidase, and arylsulphatase A. In leukocytes, however, several enzymes had reduced activity, particularly alpha-fucosidase, beta-glucuronidase and alpha-mannosidase. These abnormalities could result from missorting, defective reuptake and/or reduced stability of the enzymes due to the defective glycosylation.
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