ReviewEuropean journal of pediatrics2003
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
Review in European journal of pediatrics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
81 citing papers in PubMed, 293 citations in OpenAlex.
- Article
- Characterization of age-related dolichol increases in the retina of the C57BL/6 mouse.Scientific reports · 2025Article
- The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report.BMC psychiatry · 2025Article
- Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.International journal of molecular sciences · 2025Article
- Article
- Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblasts.Analytical and bioanalytical chemistry · 2024Article
- Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novelMolecular genetics and metabolism reports · 2024Article
- Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.Journal of musculoskeletal & neuronal interactions · 2024Article
- Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11.Molecular syndromology · 2023Article
- A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.JCEM case reports · 2023Article
- A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.Molecular genetics & genomic medicine · 2023Review
- Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 DeficiencyJournal of clinical research in pediatric endocrinology · 2022Article
- Metabolic Labeling of Primary Neurons Using Carbohydrate Click Chemistry.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.Journal of clinical medicine · 2021Article
- Spatial N-glycomics of the human aortic valve in development and pediatric endstage congenital aortic valve stenosis.Journal of molecular and cellular cardiology · 2021Article
- Treatment Options in Congenital Disorders of Glycosylation.Frontiers in genetics · 2021Review
- Various biological functions of carbohydrate chains learned from glycosyltransferase-deficient mice.Experimental animals · 2020Article
- Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature.European journal of pediatrics · 2020Review
- Reduced myocyte complex N-glycosylation causes dilated cardiomyopathy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Congenital disorders of glycosylation.Annals of translational medicine · 2018Review
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended.
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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.