Evidence map›Paper›PMID 28643274›Full record

ArticleJIMD reports2018

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.

Pier Luigi Calvo, Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò, Stefania Reggiani, Angelo B Cefalù, Luisella Sturiale, Domenico Garozzo and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

12 authors at 5 institutions in 3 countries.

Pier Luigi CalvoPediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy. pcalvo@cittadellasalute.to.it.
Marco SpadaDepartment of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy.
Ivana RabboneDepartment of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy.
Michele PinonPediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy.
Francesco PortaDepartment of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy.
Fabio CisaròPediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy.
Stefania ReggianiPediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy.
Angelo B CefalùDepartment of Biomedicine, Internal Medicine and Medical Specialties (DIBIMIS), University of Palermo, Palermo, Italy.
Luisella SturialeCNR Institute for Polymers Composites and Biomaterials, Catania, Italy.
Domenico GarozzoCNR Institute for Polymers Composites and Biomaterials, Catania, Italy.
Dirk J LefeberTranslational Metabolic Laboratory, Department of Neurology, Radboudumc, Nijmegen, The Netherlands.
Jaak JaekenDepartment of Development and Regeneration, Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITInstitute of Polymers, Composites and Biomaterials · ITKU Leuven · BERadboud University Medical Center · NLUniversity of Palermo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since the biological parents of this adopted child were not available.

Indexed as

CDG-IIHypercholesterolemiaHypoceruloplasminemiaNeurohepatic involvement

Identifiers

PMID28643274
PMCPMC5874206
OpenAlexW2643466996

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.