ReviewJournal of inherited metabolic disease2011
Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 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.
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Who cites it
68 citing papers in PubMed.
- Oral D-galactose supplementation in PGM1-CDG.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Trial
- Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.Molecular genetics & genomic medicine · 2026Review
- CORT silencing impairs migration and invasion: validation of a glycosylation-based risk model (CORT/LPAR5/CEBPA/MYH10/MAGEA11) in osteosarcoma.European journal of medical research · 2026Article
- Quantum Consciousness: A Molecular Perspective Involving Glycoprotein-Tunnelling Hypothesis (GPTH).Current medicinal chemistry · 2026Article
- Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.Orphanet journal of rare diseases · 2024Article
- Natural history of three late-diagnosed classic Galactosemia patients.Molecular genetics and metabolism reports · 2024Article
- A case report ofFrontiers in pediatrics · 2024Article
- Aberrant glycosylation in schizophrenia: insights into pathophysiological mechanisms and therapeutic potentials.Frontiers in pharmacology · 2024Review
- Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.Molecular genetics and metabolism · 2023Review
- PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.JIMD reports · 2023Article
- Congenital disorders of glycosylation (CDG): state of the art in 2022.Orphanet journal of rare diseases · 2023Review
- Synthesis, Processing, and Function of N-Glycans in N-Glycoproteins.Advances in neurobiology · 2023Review
- The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.Journal of human genetics · 2022Article
- Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.Cells · 2021Review
- Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.Molecular genetics & genomic medicine · 2021Review
- GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.The Journal of clinical investigation · 2021Article
- Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.Glycoconjugate journal · 2021Article
- Treatment Options in Congenital Disorders of Glycosylation.Frontiers in genetics · 2021Review
- Hormonal dysfunction in adult patients affected with inherited metabolic disorders.Journal of mother and child · 2020Review
- Identification of Two Novel Mutations inFrontiers in genetics · 2020Article
8 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
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled 'Congenital disorders of glycosylation CDG): It's all in it!'. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.
Indexed as
Identifiers
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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.