ArticleEuropean journal of human genetics : EJHG2018
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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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
11 citing papers in PubMed.
- Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report.Clinical case reports · 2025Article
- Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (International journal of molecular sciences · 2023Article
- 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
- Congenital disorder of glycosylation caused by mutation ofWorld journal of clinical cases · 2021Article
- Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.Journal of inherited metabolic disease · 2021Article
- Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.Orphanet journal of rare diseases · 2021Article
- Congenital Disorders of Glycosylation: What Clinicians Need to Know?Frontiers in pediatrics · 2021Review
- Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.Frontiers in genetics · 2021Review
- Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.Journal of inherited metabolic disease · 2020Article
- ATP6AP1-CDG: Follow-up and female phenotype.JIMD reports · 2020Article
Corrections and comments
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Authors and funding
6 authors.
Funding
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Abstract
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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.