Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Muhammad WasimHaq N KhanHina AyeshaMazhar IqbalAbdul TawabMuhammad IrfanWarsha KanhaiSusanna M I GoordenLida StroomerGajja SalomonsFrederic M VazClara D M van KarnebeekFazli Rabbi AwanPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2021)
With personalized treatment and care, such patients can reach their full potential of living as healthy a life as possible. This screening study is one of the pioneering initiatives in Pakistan which would help to minimize the burden of such treatable inborn errors of metabolism in the intellectually disabled patients.