ArticleWorld journal of clinical cases2021
Congenital disorder of glycosylation caused by mutation of
Article in World journal of clinical cases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- The clinical implications of zinc and copper levels in COPD patients: a narrative review.Annals of medicine and surgery (2012) · 2025Review
- Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report.Clinical case reports · 2025Article
- Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.Journal of inherited metabolic disease · 2023Article
- Expanding the phenotype ofCold Spring Harbor molecular case studies · 2022Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe CASE SUMMARY: An 8-mo-old boy was admitted to our hospital because unexplained hepatosplenomegaly and elevated transaminases that had been noted while he was being treated for a cough at a local hospital. A post-admission examination at our hospital revealed abnormalities in the infant's liver, brain, and immune system. Trio-based whole exome gene analysis identified a hemizygous pathogenic mutation c.1036G>A (p.E346K) in exon 9 of the
conclusionBased on the infant's clinical manifestations and the results of genetic detection, he was clearly diagnosed with
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Registered trials
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