Evidence map›Paper›PMID 27896118›Full record

ArticleMolecular genetics and metabolism reports2014

Expanding the spectrum of

Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth

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

Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Review
  3. spJournal of enzyme inhibition and medicinal chemistry · 2022
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
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 4 institutions in 1 country.

Jayesh ShethDepartment of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India.
Mehul MistriDepartment of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India.
Chaitanya DatarDepartment of Genetics, Clinical Geneticist, Sahyadri Medical Genetics and Tissue Engineering Facility (SMGTEF), Pune, India.
Umesh KalaneDepartment of Genetics, Clinical Geneticist, Sahyadri Medical Genetics and Tissue Engineering Facility (SMGTEF), Pune, India.
Shekhar PatilDepartment of Pediatric Neurology, Hiranandani Hospital, Mumbai, Maharashtra, India.
Mahesh KamateDepartment of Pediatric Neurology, KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India.
Harshuti ShahRajvee Child Neuro Hospital, Memnagar, Ahmedabad, India.
Sheela NampoothiriDepartment of Pediatric Genetics, Amrita Institute of Medical Science & Research Centre, AIMS Ponekkara PO, Cochin, Kerala, India.
Sarita GuptaDepartment of Biochemistry, Faculty of Science, M.S. University of Baroda, Vadodara, Gujarat, India.
Frenny ShethDepartment of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India.
Sahyadri Hospital · INAmrita Institute of Medical Sciences and Research Centre · INKLE Society Hospital · INMaharaja Sayajirao University of Baroda · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tay-Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in

Indexed as

HEXA geneHex-A, β-Hexosaminidase ALSDs, Lysosomal storage disordersLysosomal enzymeMUG, 4-Methylumbelliferyl-N-acetyl-β-d-glucosamineMUGS, 4-Methylumbelliferyl-N-acetyl-β-d-glucosamine-6-sulfateSD, Sandhoff diseaseTay–Sachs diseaseTSD, Tay–Sachs diseaseβ-Hexosaminidase-A

Identifiers

PMID27896118
PMCPMC5121347
OpenAlexW1984643409

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.