Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84]
نویسندگان
چکیده
[This corrects the article DOI: 10.1016/j.ymgmr.2015.01.005.].
منابع مشابه
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children
We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp), and the t...
متن کاملFirst microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lower activity than can be attributed to the mutations identified by DNA sequencing.
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Method A retrospective cohort study was performed on 205 children aged 1−12 years presented to a tertiary care hospital in Sri Lanka;119 with epilepsy, exposed to AEDs more than 2 years and 86 who are unexposed to AED. Vitamin D levels and bone profile were analyzed by chemiluminescent auto analyzer and photometric methods respectively. The prevalence of Vitamin D deficiency (< 20ng/ml) among c...
متن کاملBiotinidase deficiency.
A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.
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Anemia affects over 800 million women and children globally. Measurement of hepcidin as an index of iron status shows promise, but its diagnostic performance where hemoglobinopathies are prevalent is unclear. We evaluated the performance of hepcidin as a diagnostic test of iron deficiency in adolescents across Sri Lanka. We selected 2273 samples from a nationally representative cross-sectional ...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2017