Publications by authors named "Muhammad-Rauf Yaqub"
Na-taurocholate cotransporting polypeptide deficiency (NTCPD) is an autosomal recessive disorder arising from biallelic mutations. As a newly-described inborn error of bile acid metabolism, the epidemiology of this condition remains largely unclear in Chinese population so far. In this study, a total of 2,828 peripheral blood samples were collected from 12 cities in Guangdong, a province with the largest population in China, and the four prevalent variants c.
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- NTCPD is a new disorder linked to mutations in the SLC10A1 gene, but more studies are needed to fully understand its impacts.
- The study examined 113 pediatric patients with NTCPD, identifying two new mutations and noting that most patients had elevated bile salts and bilirubin levels.
- Despite the challenges associated with NTCPD, patients generally had good outcomes with supportive care; doctors should consider testing for this condition in cases with specific symptoms.
Background: Citrin deficiency (CD) is an autosomal recessive disease resulting from biallelic mutations of the gene. This study aimed to investigate the molecular epidemiological features of CD in the Guangdong and Shaanxi provinces of China.
Methods: A total of 3,409 peripheral blood samples from Guangdong and 2,746 such samples from Shaanxi province were collected.