| Title |
Newborn Screening for Adrenoleukodystrophy
|
|---|---|
| Published in |
Molecular Diagnosis & Therapy, August 2012
|
| DOI | 10.1007/bf03256261 |
| Pubmed ID | |
| Authors |
Gerald V. Raymond, Richard O. Jones, Ann B. Moser |
| Abstract |
X-Linked adrenoleukodystrophy (X-ALD) is a progressive metabolic condition affecting the adrenal glands and nervous system of males. Although variable in the age of onset and presentation in families, X-ALD does present in characteristic phenotypes including a devastating childhood form that affects 35% of boys with this genetic condition. The majority of males with X-ALD will also develop adrenal insufficiency, which may result in crisis. Early detection is desirable in order to prevent morbidity from this condition. We have recently developed a tandem mass spectroscopy method that allows this to be done during newborn screening for other genetic disorder. In this review, we discuss the rationale for early detection, its effect on treatment, and some of the uncertainties. |
Mendeley readers
The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 4% |
| Unknown | 26 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 5 | 19% |
| Researcher | 5 | 19% |
| Student > Ph. D. Student | 4 | 15% |
| Student > Bachelor | 2 | 7% |
| Student > Master | 2 | 7% |
| Other | 2 | 7% |
| Unknown | 7 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 30% |
| Neuroscience | 4 | 15% |
| Biochemistry, Genetics and Molecular Biology | 3 | 11% |
| Agricultural and Biological Sciences | 3 | 11% |
| Physics and Astronomy | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 7 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 13 May 2020.
All research outputs
#7,487,737
of 22,888,307 outputs
Outputs from Molecular Diagnosis & Therapy
#101
of 379 outputs
Outputs of similar age
#49,757
of 149,648 outputs
Outputs of similar age from Molecular Diagnosis & Therapy
#19
of 54 outputs
Altmetric has tracked 22,888,307 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 379 research outputs from this source. They receive a mean Attention Score of 3.5. This one has gotten more attention than average, scoring higher than 60% of its peers.
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We're also able to compare this research output to 54 others from the same source and published within six weeks on either side of this one. This one is in the 11th percentile – i.e., 11% of its contemporaries scored the same or lower than it.