Repeatability and Reliability of Home-Based Stool Color Card Screening for Biliary Atresia Based on Results in China and Japan.

Biliary atresia (BA) is the most frequent hepatic cause of death in early childhood. Early referral and timely Kasai portoenterostomy are essential for the improvement of long-term native liver survival rate of BA patients. Screening with stool color card (SCC) has been implemented in Japan since 1994.

Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.

Background Individual inborn errors of metabolism (IEMs) are rare disorders. Expanded newborn screening for IEMs by tandem mass spectrometry (TMS) is an efficient approach for early diagnosis. Here we provide the newborn screening program for the application of this approach (between July 2014 and March 2019) to the identification of newborns in Beijing at risk of developing a potentially fatal disease.

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.

Background A provisionary screening programme for 21-hydroxylase deficiency (21-OHD) was initiated in Beijing in 2014. The aim of this study was to investigate the incidence and the associated clinical characteristics of neonatal congenital adrenal hyperplasia (CAH) in Beijing and to provide evidence-based guidance for its application in CAH screening. Methods Live birth newborns (n=44,360) were screened for CAH in Beijing from July 2014 to April 2018.

Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria.

Objective: This study's aim was to identify the genetic causes in a patient with phenylketonuria and hearing loss, liver disease, developmental and mental retardation, hypotonia, and external ophthalmoplegia.

Methods: Whole-exome sequencing and Sanger sequencing analysis were used to determine the genetic causes of manifestations in a young boy with hearing loss, liver disease, develop-mental and mental retardation, hypotonia, and external ophthalmoplegia.

Results: We found that the child harbored polymerase gamma ( POLG) compound heterozygous mutations, c.

Modified stool color card with digital images was efficient and feasible for early detection of biliary atresia-a pilot study in Beijing, China.

Background: The aim of this pilot study in Beijing, China, was to validate a screening system for early detection of biliary atresia (BA) by using a modified version of the stool color card (SCC).

Methods: From 2013 to 2014, a total of 29 799 live born infants were screened. SCC was distributed in maternal facilities.