Trial reportJournal of inherited metabolic disease2000
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.
Trial report in Journal of inherited metabolic disease, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 64 citations in OpenAlex.
- A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.Orphanet journal of rare diseases · 2025Review
- Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Article
- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.JIMD reports · 2019Article
- The Analysis of Variants in the General Population Reveals ThatInternational journal of molecular sciences · 2018Article
- Recognizable phenotypes in CDG.Journal of inherited metabolic disease · 2018Review
- PMM2-CDG and sensorineural hearing loss.Journal of inherited metabolic disease · 2017Article
- Immunological aspects of congenital disorders of glycosylation (CDG): a review.Journal of inherited metabolic disease · 2016Review
- Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.Pediatric cardiology · 2012Article
- Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).Cerebellum (London, England) · 2012Article
- Congenital protein hypoglycosylation diseases.The application of clinical genetics · 2012Article
- The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.JIMD reports · 2011Article
- A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.Orphanet journal of rare diseases · 2010Article
- RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.Journal of inherited metabolic disease · 2009Article
- Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.Journal of inherited metabolic disease · 2009Review
- Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.Journal of inherited metabolic disease · 2009Article
- RFT1 deficiency in three novel CDG patients.Human mutation · 2009Article
- Human RFT1 deficiency leads to a disorder of N-linked glycosylation.American journal of human genetics · 2008Article
- Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.Journal of medical genetics · 2007Article
- Improvement of CDG diagnosis by combined examination of several glycoproteins.Journal of inherited metabolic disease · 2004Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
18 UK patients (14 families) have been diagnosed with the carbohydrate-deficient glycoprotein syndrome (CDGS), type 1, on the basis of their clinical symptoms and/or abnormal electrophoretic patterns of serum transferrin. Eleven out of the 16 infants died before the age of 2 years. Patients from 12 families had a typical type 1 transferrin profile but one had a variant profile and another, who had many of the clinical features of CDGS type 1, had a normal profile. Eleven of the patients (10 families) with the typical type 1 profile had a deficiency of phosphomannomutase (PMM), (CDGS type 1a) but there was no correlation between residual enzyme activity and severity of disease. All these patients were compound heterozygotes for mutations in the phosphomannomutase (PMM2) gene, with 7 out of the 10 families having the common R141H mutation. Eight different mutations were found, including three novel ones. There was no correlation between genotype and phenotype, although siblings had similar phenotypes. Three patients, including the one with the normal transferrin profile, did not have a deficiency of phosphomannomutase or phosphomannose isomerase (CDGS 1b).
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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.