Evidence map›Paper›PMID 29042446›Full record

ArticleCold Spring Harbor molecular case studies2017

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Mari Auranen, Jussi Toppila, Saranya Suriyanarayanan, Museer A Lone, Anders Paetau, Henna Tyynismaa, Thorsten Hornemann, Emil Ylikallio

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

21 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.

  1. Pooled it
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  10. Genetic pain loss disorders.Nature reviews. Disease primers · 2022
    Review
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  15. Pharmacokinetics of oral l-serine supplementation in a single patient.Molecular genetics and metabolism reports · 2020
    Article
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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

8 authors at 3 institutions in 2 countries.

Mari AuranenResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00014, Finland.
Jussi ToppilaDepartment of Clinical Neurophysiology, Medical Imaging Center, Helsinki University Hospital, Helsinki 00029, Finland.
Saranya SuriyanarayananInstitute for Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich 8091, Switzerland.
Museer A LoneInstitute for Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich 8091, Switzerland.
Anders PaetauDepartment of Pathology, HUSLAB and University of Helsinki, Helsinki 00029, Finland.
Henna TyynismaaResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00014, Finland.
Thorsten HornemannInstitute for Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich 8091, Switzerland.
Emil YlikallioResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00014, Finland.
Helsinki University Hospital · FIUniversity Hospital of Zurich · CHUniversity of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary sensory neuropathy type 1 (HSAN1) may be the first genetic neuropathy amenable to a specific mechanism-based treatment, as L-serine supplementation can be used to lower the neurotoxic levels of 1-deoxysphingolipids (1-deoxySL) that cause the neurodegeneration. The treatment is so far untested in HSAN1C caused by variants in the serine palmitoyl transferase subunit 2 (

Indexed as

AdultDietary SupplementsFemaleHereditary Sensory and Autonomic NeuropathiesHumansMutationSerineSerine C-PalmitoyltransferaseSphingolipidsSerineSerine C-PalmitoyltransferaseSphingolipidsSPTLC2 protein, humansensorimotor neuropathy

Identifiers

PMID29042446
PMCPMC5701299
OpenAlexW2766239534

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.