ReviewJournal of inherited metabolic disease2008
Congenital disorders of glycosylation--a challenging group of IEMs.
Review in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed.
- Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
- A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.Orphanet journal of rare diseases · 2010Article
- 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
- Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci.Glycobiology · 2009Article
- Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.Journal of inherited metabolic disease · 2008Article
- Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.Journal of inherited metabolic disease · 2008Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorders of glycosylation (CDG) are a rapidly growing group of inherited errors of metabolism (IEMs) due to an impairment of one or several glycosylation pathways. During recent years over 30 CDG subtypes have been identified at a molecular and biochemical level. The clinical manifestations in CDG are heterogeneous and may be highly variable within the same subtype and even among affected siblings. Novel insights into the extremely complex glycosylation pathways have necessitated several reclassifications of the group of CDG. Today CDG comprise not only the formerly known multisystem glycosylation defects but also some tissue-specific glycosylation defects, implicating a different diagnostic work-up depending on the underlying glycosylation defect. In 2007 the expanding group of CDG is an enormous challenge to all specialists working in the field of IEMs. This review gives a brief overview about the expanded group of CDG and summarizes the main implications for clinicians.
Indexed as
Identifiers
18392739What OpenQuestion holds
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.