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The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2016
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Title
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
Published in
Orphanet Journal of Rare Diseases, January 2016
DOI 10.1186/s13023-016-0394-2
Pubmed ID
Authors

Karen Anjema, Floris C. Hofstede, Annet M. Bosch, M. Estela Rubio–Gozalbo, Maaike C. de Vries, Carolien C.A. Boelen, Margreet van Rijn, Francjan J. van Spronsen

Abstract

It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness. Data on test I (>1991, 20 mg/kg) at T = 8 (n = 85) and T = 24 (n = 5) were collected and compared with test II and long-term BH4 responsiveness at later age, with ≥30 % Phe decrease used as the cut-off. The median (IQR) age at hospital diagnosis was 9 (7-11) days and the age at test II was 11.8 (6.6-13.7) years. The baseline Phe concentrations at test I were significantly higher compared to test II (1309 (834-1710) versus 514 (402-689) μmol/L, respectively, P = 0.000). 15/85 patients had a positive test I T = 8. All, except one patient who was not tested for long-term BH4 responsiveness, showed long-term BH4 responsiveness. In 20/70 patients with a negative test I T = 8, long-term BH4 responsiveness was confirmed. Of 5 patients with a test I T = 24, 1/5 was positive at both tests and showed long-term BH4 responsiveness, 2/5 had negative results at both tests and 2/5 showed a negative test I T = 24, but a positive test II with 1/2 showing long-term BH4 responsiveness. Both a positive neonatal 8- and 24-h BH4 loading test are predictive for long-term BH4 responsiveness. However, a negative test does not rule out long-term BH4 responsiveness. Other alternatives to test for BH4 responsiveness at neonatal age should be investigated.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 2%
Unknown 41 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 19%
Student > Bachelor 6 14%
Other 4 10%
Student > Ph. D. Student 3 7%
Student > Postgraduate 3 7%
Other 5 12%
Unknown 13 31%
Readers by discipline Count As %
Medicine and Dentistry 11 26%
Biochemistry, Genetics and Molecular Biology 6 14%
Agricultural and Biological Sciences 5 12%
Neuroscience 3 7%
Pharmacology, Toxicology and Pharmaceutical Science 2 5%
Other 3 7%
Unknown 12 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 29 January 2016.
All research outputs
#14,246,461
of 22,842,950 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,568
of 2,621 outputs
Outputs of similar age
#207,714
of 396,346 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#53
of 73 outputs
Altmetric has tracked 22,842,950 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,621 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 35th percentile – i.e., 35% of its peers scored the same or lower than it.
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 396,346 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 73 others from the same source and published within six weeks on either side of this one. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.