Evidence map›Paper›PMID 34277355›Full record

ArticleMolecular genetics and metabolism reports2021

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a

J Andres Morales, Christina G Tise, Amrita Narang, Paul C Grimm, Gregory M Enns, Chung U Lee

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 2 pooled it
0.2field-weighted citation impact, top 50% 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, 2 syntheses or guidelines pooled it, 2 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  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

6 authors at 1 institution in 1 country.

J Andres MoralesDepartment of Pediatrics, Division of Medical Genetics, Stanford University, United States of America.
Christina G TiseDepartment of Pediatrics, Division of Medical Genetics, Stanford University, United States of America.
Amrita NarangDepartment of Pediatrics, Division of Gastroenterology, Stanford University, United States of America.
Paul C GrimmDepartment of Pediatrics, Division of Nephrology, Stanford University, United States of America.
Gregory M EnnsDepartment of Pediatrics, Division of Medical Genetics, Stanford University, United States of America.
Chung U LeeDepartment of Pediatrics, Division of Medical Genetics, Stanford University, United States of America.
Stanford University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis. GSD IXɑ2 is caused by hemizygous pathogenic variants in

Indexed as

Glycogen storage disorder type IXGSD IXɑ2Neonatal lactic acidosisPHKA2Renal tubulopathySensorineural hearing loss

Identifiers

PMID34277355
PMCPMC8261893
OpenAlexW3158451479

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.