| Title |
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, December 2005
|
| DOI | 10.1007/s10545-005-0161-3 |
| Pubmed ID | |
| Authors |
T. Baykal, G. Gokcay, Y. Gokdemir, F. Demir, Y. Seckin, M. Demirkol, K. Jensen, B. Wolf |
| Abstract |
We report 32 biotinidase-deficient patients detected by family studies in the index cases. The study group consisted of 10 mothers, 4 fathers and 18 siblings. There were 17 individuals (3 mothers, 4 fathers and 10 siblings) with profound biotinidase deficiency (BD) (< 10% of mean normal activity) and 15 (7 mothers and 8 siblings) with partial BD (10-30% of mean normal activity). In the profound BD group, only three siblings were symptomatic. Dermatitis, microcephaly, developmental delay and convulsions were observed. The patients with partial BD did not have any clinical symptoms except one sibling with borderline IQ score. None of the parents was symptomatic. Family investigation of patients with BD is very important for the detection of asymptomatic patients who are at risk of exhibiting symptoms at any age. Careful evaluation of these untreated individuals with BD is important to obtain additional information about the natural history of this disorder and may provide clues to phenotype-genotype relationships and treatment regimes. |
Mendeley readers
The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 28 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 21% |
| Student > Master | 5 | 18% |
| Professor > Associate Professor | 3 | 11% |
| Other | 3 | 11% |
| Student > Doctoral Student | 2 | 7% |
| Other | 6 | 21% |
| Unknown | 3 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 7 | 25% |
| Biochemistry, Genetics and Molecular Biology | 4 | 14% |
| Medicine and Dentistry | 4 | 14% |
| Immunology and Microbiology | 2 | 7% |
| Psychology | 2 | 7% |
| Other | 6 | 21% |
| Unknown | 3 | 11% |
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 16 March 2011.
All research outputs
#7,453,827
of 22,787,797 outputs
Outputs from Journal of Inherited Metabolic Disease
#684
of 1,841 outputs
Outputs of similar age
#37,981
of 146,531 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#7
of 15 outputs
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