First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

Keyphrases

• Enzyme Deficiency 100%
• Contiguous Gene Deletion 100%
• Biotinidase Deficiency 100%
• Sri Lankan children 100%
• BTD Gene 100%
• Genotype 50%
• Enzymatic Activity 50%
• Missense mutation 50%
• Clinical Features 50%
• Newborn Screening 50%
• Novel mutation 50%
• Sri Lanka 50%
• Asymptomatic children 50%
• Western Countries 50%
• Symptomatic children 50%

Biochemistry, Genetics and Molecular Biology

• Enzyme 100%
• Gene Deletion 100%
• Missense Mutation 100%
• Biotinidase 100%
• Genotyping 50%
• Enzyme Activity 50%
• Newborn Screening 50%