SynthesisJournal of inherited metabolic disease2017
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.
Synthesis in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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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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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
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.
- Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Impaired glycosylation promotes rapid transition to hepatocellular carcinoma in model of diet-induced steatotic liver disease.The Journal of clinical investigation · 2026Article
- Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Siamese Twins: The Multimodular Mechanisms of Golgi Maturation and Glycan Synthesis Are Coupled at Their Core.Sub-cellular biochemistry · 2026Review
- Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.Orphanet journal of rare diseases · 2025Article
- [Inherited metabolic liver disease causing copper deposition].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Review
- Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.Journal of inherited metabolic disease · 2025Article
- Pediatric Anesthetic Management of a Patient With an ALG-13 Gene Mutation, a Rare Congenital Disorder of Glycosylation.Clinical case reports · 2025Article
- Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.Molecular genetics and metabolism reports · 2024Article
- Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.Orphanet journal of rare diseases · 2024Article
- A community-centric model for conference co-creation: the world conference on CDG for patients, families and professionals.Research involvement and engagement · 2024Article
- Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novelMolecular genetics and metabolism reports · 2024Article
- Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).Orphanet journal of rare diseases · 2024Observational
- The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.Scientific reports · 2023Article
- Congenital disorders of glycosylation (CDG): state of the art in 2022.Orphanet journal of rare diseases · 2023Review
- A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.Molecular genetics & genomic medicine · 2023Review
- Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.Molecular genetics and metabolism · 2023Article
- Dominant neoantigen verification in hepatocellular carcinoma by a single-plasmid system coexpressing patient HLA and antigen.Journal for immunotherapy of cancer · 2023Article
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.Journal of inherited metabolic disease · 2023Article
- Missing heritability of Wilson disease: a search for the uncharacterized mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
3 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
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening. Sixteen of the patients we collated here developed cirrhosis, 10 had liver failure. We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG, and on the other hand, the CDG types associated with liver disease but not as a striking, unique or predominant feature, including PMM2-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, PGM1-CDG, and COG-CDG. This review aims to facilitate CDG patient identification and to understand CDG liver involvement, hopefully leading to earlier diagnosis, and better management and treatment.
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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.