Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Wasim M, Khan HN, Ayesha H, Iqbal M, Tawab A, Irfan M, Kanhai W, Goorden SMI, Stroomer L, Salomons G, Vaz FM, Karnebeek CDMV, Awan FR.
Wasim M, et al.
J Pediatr Endocrinol Metab. 2021 Dec 14;35(3):325-332. doi: 10.1515/jpem-2021-0508. Print 2022 Mar 28.
J Pediatr Endocrinol Metab. 2021.
PMID: 34905667
BACKGROUND: Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-beta-synthase (CBS: encoded by CBS) deficiency. Symptoms of untreated classical HCU patients include intellectu …
BACKGROUND: Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine …