Article in International journal of neonatal screening, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.7field-weighted citation impact, top 31% 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
1 citing paper in PubMed, 6 citations in OpenAlex.
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
16 authors at 6 institutions in 3 countries.
Francyne KubaskiBioDiscovery Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil.ORCID 0000-0002-9330-0154
Alberto BurlinaDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Child's Health, University of Padova, 35129 Padova, Italy.ORCID 0000-0001-7724-137X
Giulia PoloDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Child's Health, University of Padova, 35129 Padova, Italy.ORCID 0000-0003-3157-2979
Danilo PereiraWaters Technologies Do Brasil, São Paulo 06455-000, Brazil.
Zackary M HerbstDepartment of Chemistry, University of Washington, Seattle, WA 98105-6250, USA.ORCID 0000-0002-0097-4222
Camilo SilvaWaters Technologies Do Brasil, São Paulo 06455-000, Brazil.
Franciele B TrappMedical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.
Kristiane Michelin-TirelliMedical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.
Franciele F LopesMedical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.ORCID 0000-0002-5022-3742
Maira G BurinMedical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.
Ana Carolina Brusius-FacchinBioDiscovery Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil.
Roberto GiuglianiBioDiscovery Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil.ORCID 0000-0001-9655-3686
National Institute on Population Medical Genetics · BRUniversidade Federal do Rio Grande do Sul · BRHospital de Clínicas de Porto Alegre · BRUniversity of Padua · ITInnovatech (Brazil) · BRUniversity of Washington · US
Funding
Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul 17/2551-0000521-0National Council for Scientific and Technological Development 405495/2018-8National Institute on Population Medical Genetics 465549/2014-4National Institute on Population Medical Genetics 88887.136366/2017-00NPC Brazil Network (with partial support provided by Janssen Pharmaceutical) n/a
6 · The paper itself
Abstract
Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid sphingomyelinase deficiency patients. In this study, we report our experience using a two-tier approach (1st tier is the quantification of lysoSM509 by ultra-performance liquid chromatography tandem mass spectrometry followed by the 2nd tier with next-generation sequencing of the
Indexed as
biomarkerBrazillysosomal storage disorderlysosphingomyelin-509Niemann-Pick disease type Ctandem mass spectrometry
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 Socratic graph.
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C. · full record | Socratic