| Title |
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
|
|---|---|
| Published in |
CEN Case Reports, January 2018
|
| DOI | 10.1007/s13730-017-0298-6 |
| Pubmed ID | |
| Authors |
David Navarro, Ana Azevedo, Sílvia Sequeira, Ana Carina Ferreira, Fernanda Carvalho, Teresa Fidalgo, Laura Vilarinho, Maria Céu Santos, Joaquim Calado, Fernando Nolasco |
| 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. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 3 | 20% |
| Student > Doctoral Student | 3 | 20% |
| Student > Ph. D. Student | 2 | 13% |
| Lecturer > Senior Lecturer | 1 | 7% |
| Other | 1 | 7% |
| Other | 1 | 7% |
| Unknown | 4 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 47% |
| Biochemistry, Genetics and Molecular Biology | 2 | 13% |
| Neuroscience | 1 | 7% |
| Agricultural and Biological Sciences | 1 | 7% |
| Unknown | 4 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 January 2018.
All research outputs
#17,901,353
of 23,015,156 outputs
Outputs from CEN Case Reports
#123
of 247 outputs
Outputs of similar age
#309,802
of 442,119 outputs
Outputs of similar age from CEN Case Reports
#4
of 9 outputs
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