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AL EITAN, L N. -- HADDAD, Y A E. et al. Identification and characterization of BTD gene mutations in jordanian children with biotinidase deficiency. Journal of Personalized Medicine. 2020. v. 10, no. 1, ISSN 2075-4426.

Original name:
Identification and characterization of BTD gene mutations in jordanian children with biotinidase deficiency
Czech name:
Written by (author):
Laith Naser Al eitan
Yazan Abdulmajeed Eyadh Haddad, Ph.D.
Department:
Department of Chemistry and Biochemistry
Kind of publication:
article in a professional periodical
Periodical:
Journal of Personalized Medicine
Nature of article: paper
Volume no. (year):
10
Periodical number within the volume:
1
Year of publication:
2020
Starting page:
Up to page:
Number of pages:
10
Sub-specification:
článek je obsažen v databázi SCOPUS
UT code by Web of Science:
EID code by Scopus:
Form of publication:
printed version
Original language: English
Description in original language: Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future.
Description in English:
Description in Czech:
Year of submission:
2020
Year of transmission:
RIV identification number:
 
Entry made by:
Last change:
02/10/2020 10:39 (Šárka Novotná)

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Source specification:

Journal of Personalized Medicine. Basel: ISSN 2075-4426.

Original name:
Journal of Personalized Medicine
Czech name:
Written by (author):
Kind of publication:
magazine
ISSN:
2075-4426
Country of publisher:
Swiss Confederation
Place of publishing:
Basel
Publisher:
MDPI AG (Multidisciplinary Digital Publishing Institute-MDPI)
URL:
Reviewed magazine:
no
Original language:
English
Description in original language:
Description in English:
Description in Czech:
 
Entry made by:
Last change:
02/10/2020 10:39 (Šárka Novotná)

Evaluation of publication:

1
2345
        
1
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5
bad
 
good
        
uninteresting
 
interesting
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123
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amateur
 
professional
        
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