ReviewPostgraduate medical journal2000
Carbohydrate-deficient glycoprotein syndromes.
Review in Postgraduate medical journal, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 32 citations in OpenAlex.
- Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years.GMS ophthalmology cases · 2019Article
- UroPathogenicFrontiers in microbiology · 2017Review
- Genetic networks in the mouse retina: growth associated protein 43 and phosphatase tensin homolog network.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
1 author.
Funding
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Abstract
Four types of carbohydrate-deficient glycoprotein syndrome have been described, and the cause of two of them has been found. The symptoms and signs of these syndromes are described, with variations that occur at different ages. The commonest is type Ia with an autosomal recessive form of inheritance, and the gene responsible has been mapped to 16p. The typical pathology is atrophy of the cerebellum and brainstem, sometimes also involving the cortex, although both the pathology and the biochemical deficiencies vary between different types of syndrome. The diagnosis depends firstly on recognising the clinical features, including the presence of complications such as thyroid disorders. Then biochemical tests can be carried out, especially chromatographic carbohydrate-deficient transferrin assay and isoelectric focusing of serum transferrin. The prognosis depends on the complications, renal, hepatic, and cardiac, but affected children will be severely handicapped. Therefore treatment consists mainly of coping with the complications, and supporting the child and the family. Oral infusion of mannose can be effective in type Ib disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.