Evidence map›Paper›PMID 29294253›Full record

ArticleCEN case reports2018

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.

David Navarro, Ana Azevedo, Sílvia Sequeira, Ana Carina Ferreira, Fernanda Carvalho, Teresa Fidalgo, Laura Vilarinho, Maria Céu Santos, Joaquim Calado, Fernando Nolasco

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

Article in CEN case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 2 pooled it
0.2field-weighted citation impact, top 51% 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

3 citing papers in PubMed, 2 syntheses or guidelines pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. 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 4 institutions in 1 country.

David NavarroNephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Rua da Beneficência 8, 1069-166, Lisbon, Portugal. Davidbnavarro@gmail.com.ORCID http://orcid.org/0000-0002-1977-794X
Ana AzevedoNephrology Department, Centro Hospitalar de Setúbal E.P.E., Hospital de São Bernardo, Setúbal, Portugal.
Sílvia SequeiraMetabolic Diseases Unit, Paediatric Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Dona Estefânia, Lisbon, Portugal.
Ana Carina FerreiraNephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Rua da Beneficência 8, 1069-166, Lisbon, Portugal.
Fernanda CarvalhoNephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Rua da Beneficência 8, 1069-166, Lisbon, Portugal.
Teresa FidalgoHematology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Laura VilarinhoNewborn Screening, Metabolism and Genetics Unit, Dr. Ricardo Jorge National Institute of Health, Lisbon, Portugal.
Maria Céu SantosClinical Pathology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital São José, Lisbon, Portugal.
Joaquim CaladoNephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Rua da Beneficência 8, 1069-166, Lisbon, Portugal.
Fernando NolascoNephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Rua da Beneficência 8, 1069-166, Lisbon, Portugal.
Unidade Local de Saúde de São José · PTHospitais da Universidade de Coimbra · PTHospital de São Bernardo · PTNational Institute of Health Dr. Ricardo Jorge · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.

Indexed as

Methylmalonic aciduria and homocystinuriaThrombotic microangiopathyVitamin B12 metabolism

Identifiers

PMID29294253
PMCPMC5886929
OpenAlexW2782535529

What OpenQuestion holds

Textmetadata
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.