| Title |
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, August 2015
|
| DOI | 10.1007/s10545-015-9880-2 |
| Pubmed ID | |
| Authors |
Kevin Berendse, Marc Engelen, Sacha Ferdinandusse, Charles B. L. M. Majoie, Hans R. Waterham, Frédéric M. Vaz, Johannes H. T. M. Koelman, Peter G. Barth, Ronald J. A. Wanders, Bwee Tien Poll‐The |
| Abstract |
We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood. Retrospective cohort study in patients with a genetically confirmed ZSD. All patients (n = 19; aged 16-35 years) had a follow-up period of 1-24.4 years (mean 16 years). Seven patients had a progressive disease course, while 12 remained clinically stable during follow-up. Disease progression usually manifests in adolescence as a gait disorder, caused by central and/or peripheral nervous system involvement. Nine were capable of living a partly independent life with supported employment. Systematic MRI review revealed T2 hyperintense white matter abnormalities in the hilus of the dentate nucleus and/or peridentate region in nine out of 16 patients. Biochemical analyses in blood showed abnormal peroxisomal biomarkers in all patients in infancy and childhood, whereas in adolescence/adulthood we observed normalization of some metabolites. The patients described here represent a distinct subgroup within the ZSDs who survive into adulthood. Most remain stable over many years. Disease progression may occur and is mainly due to cerebral and cerebellar white matter abnormalities, and peripheral neuropathy. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 1 | 50% |
| Science communicators (journalists, bloggers, editors) | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 75 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 75 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 15 | 20% |
| Student > Ph. D. Student | 9 | 12% |
| Student > Bachelor | 7 | 9% |
| Other | 6 | 8% |
| Student > Master | 5 | 7% |
| Other | 13 | 17% |
| Unknown | 20 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 15 | 20% |
| Medicine and Dentistry | 14 | 19% |
| Agricultural and Biological Sciences | 4 | 5% |
| Neuroscience | 3 | 4% |
| Nursing and Health Professions | 2 | 3% |
| Other | 12 | 16% |
| Unknown | 25 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 13. 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 20 June 2022.
All research outputs
#2,543,469
of 24,164,942 outputs
Outputs from Journal of Inherited Metabolic Disease
#102
of 1,936 outputs
Outputs of similar age
#33,459
of 270,508 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#3
of 11 outputs
Altmetric has tracked 24,164,942 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,936 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done particularly well, scoring higher than 94% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 270,508 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.