Evidence map›Paper›PMID 26937397›Full record

ArticleMolecular genetics and metabolism reports2015

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.

Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F Cox, Kate Zhang

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

Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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

10 authors at 2 institutions in 1 country.

Wei-Lien ChuangGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
Joshua PachecoGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
Samantha CooperGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
Jonathan S KingsburyGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
John HindsNortheastern University, 360 Huntington Avenue, Boston, MA 02115, USA.
Pavlina WolfGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
Petra OlivaGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
Joan KeutzerGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
Gerald F CoxGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA; Division of Genetics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
Kate ZhangGenzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
Boston Children's Hospital · USNortheastern University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann-Pick disease types A and B. Using previously published multiplex and single assay conditions, normal acid sphingomyelinase activity levels (i.e. false negative results) were observed in two sisters with Niemann-Pick B who were compound heterozygotes for two missense mutations, p.C92W and p.P184L, in the SMPD1 gene. Increasing the sodium taurocholate detergent concentration in the assay buffer lowered the activity levels of these two patients into the range observed with other patients with clear separation from normal controls.

Indexed as

Acid sphingomyelinase activityNatural substrateNiemann–Pick disease type A/BScreening

Identifiers

PMID26937397
PMCPMC4750609
OpenAlexW2040132829

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.