Evidence map›Paper›PMID 36719165›Full record

ArticleJournal of inherited metabolic disease2023

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

An N Dang Do, Irene J Chang, Xutian Jiang, Lynne A Wolfe, Bobby G Ng, Christina Lam, Rhonda E Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova and 10 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 22% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Contradictory Effects on Hepatocytes in ASMD.International journal of molecular sciences · 2026
    Review
  2. Article
  3. Article
  4. Novel Copy Number Deletion InvolvingClinical case reports · 2025
    Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 11 institutions in 3 countries.

An N Dang DoOffice of the Clinical Director, NICHD, NIH, Bethesda, Maryland, USA.ORCID 0000-0002-4171-0493
Irene J ChangDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Xutian JiangDepartment of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
Lynne A WolfeUndiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.
Bobby G NgHuman Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
Christina LamDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Rhonda E SchnurClinical Genomics Program, GeneDx, Gaithersburg, Maryland, USA.
Katrina AllisClinical Genomics Program, GeneDx, Gaithersburg, Maryland, USA.
Hana HansikovaDepartment of Pediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Nina OndruskovaDepartment of Pediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Shawn D O'ConnorDepartment of Pediatrics, Washington University School of Medicine in St. Louis, Saint Louis, Missouri, USA.
Amarilis Sanchez-ValleDivision of Genetics and Metabolism, University of South Florida, Tampa, Florida, USA.
Arve VolloDepartment of Paediatrics, Sykehuset Ostfold HF, Fredrikstad, Norway.
Raymond Y WangDivision of Metabolic Disorders, Children's Hospital of Orange County, Orange County, California, USA.
Zoe WolfensonUndiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.
John PerreaultOffice of the Clinical Director, NICHD, NIH, Bethesda, Maryland, USA.
Daniel S OryDepartment of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
Hudson H FreezeHuman Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
J Lawrence MerrittDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Forbes D PorterSection on Molecular Dysmorphology, NICHD, NIH, Bethesda, Maryland, USA.
University of Washington · USWashington University in St. Louis · USCharles University · CZID Genomics (United States) · USNational Institutes of Health · USOffice of the Director · USSanford Burnham Prebys Medical Discovery Institute · USChildren's Hospital of Orange County · USEunice Kennedy Shriver National Institute of Child Health and Human Development · USØstfold Hospital Trust · NOUniversity of South Florida · US

Funding

WU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8M
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Washington University Institute of Clinical and Translational SciencesUL1TR000448 · NCATS · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2012 to 2016
$41.4M
WU P&FP30DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI Jennifer Lynn Powers Carson · 2013 to 2026
$27.1M
New Congenital Disorders of Glycosylation: Therapy and ModelsR01DK099551 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Hudson H. Freeze · 2014 to 2026
$6.7M
Clinical Investigations of Inborn Errors of MetabolismZIAHD008989 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PORTER, FORBES · 2020 to 2025
$5.1M
Intramural NIH HHS ZIA HD008989NCATS NIH HHS UL1 TR000448NCATS NIH HHS UL1 TR002345NIDDK NIH HHS P30 DK020579NIDDK NIH HHS R01 DK099551NIDDK NIH HHS R01DK099551
6 · The paper itself

Abstract

Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations. Plasma bile acid and N-palmitoyl-O-phosphocholineserine (PPCS) are screening biomarkers with proposed improved sensitivity and specificity for NPC. We report an infant with ATP6AP1-CDG who presented with cholestatic liver failure and elevated plasma oxysterols and bile acid, mimicking NPC clinically and biochemically. On further investigation, PPCS, but not the bile acid derivative N-(3β,5α,6β-trihydroxy-cholan-24-oyl) glycine (TCG), were elevated in plasma samples from individuals with ATP6AP1-, ALG1-, ALG8-, and PMM2-CDG. These findings highlight the importance of keeping CDG within the diagnostic differential when evaluating children with early onset severe liver disease and elevated bile acid or PPCS to prevent delayed diagnosis and treatment.

Indexed as

Congenital Disorders of GlycosylationNiemann-Pick Disease, Type COxysterolsVacuolar Proton-Translocating ATPasesBile Acids and SaltsChildGlycosylationHumansHydrolasesInfantATP6AP1 protein, humanBile Acids and SaltsHydrolasesOxysterolsVacuolar Proton-Translocating ATPasesATP6AP1bile acidscongenital disorders of glycosylation (CDG)Niemann-pick type C (NPC)N-palmitoyl-O-phosphocholineserine (PPCS)oxysterols

Identifiers

PMID36719165
PMCPMC10023375
OpenAlexW4318618685

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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 Socratic graph.