Results 31 to 40 of about 2,676,573 (175)
PLoS ONE, 2014 Background and objectiveSLC25A13 analysis has provided reliable evidences for the definitive diagnosis of citrin deficiency (CD) in the past decade.
Zhan-Hui Zhang +6 more
doaj +1 more source
Scientific Reports, 2021 Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang +11 more
doaj +1 more source
Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency [PDF]
, 2023 BackgroundNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common clinical phenotype of citrin deficiency in infants. Its phenotype is atypical, so genetic testing is quite necessary for the diagnosis.Case presentationWe report ...
Jianling Zhang +11 more
core +1 more source
A Case of Adult Onset Type II Citrullinemia with SLC25A13 Gene Mutation
Journal of Korean Endocrine Society, 2006 Adult onset type II citrullinemia is an autosomal recessive disorder of the amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. This disease can occur at any age in life with recurrent episodes of neurological signs and symptoms such as disorientation, abnormal behaviors (aggression, irritability and ...
Jin-Hwa Kim +8 more
openaire +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China.
Shuai Men +8 more
doaj +1 more source
Frontiers in Genetics, 2019 Sodium taurocholate cotransporting polypeptide (NTCP), a carrier protein encoded by the gene SLC10A1, is expressed in the basolateral membrane of the hepatocyte to uptake bile acids from plasma.
Hui Lin +7 more
doaj +1 more source
DataSheet1_Identification of Novel Mutations in Chinese Infants With Citrullinemia.PDF
, 2022 Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Xiwen He (1485397) +6 more
core +1 more source
DataSheet2_Identification of Novel Mutations in Chinese Infants With Citrullinemia.docx
, 2022 Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Xiwen He (1485397) +6 more
core +1 more source
Investigating the causes of birth defects.
International Journal of Endorsing Health Science Research, 2023 Background: Understanding and investigating the causes of birth defects is a critical approach toward the findings and development of helpful treatments and diagnostic strategies to overcome the issue of birth defects.
Sumbul Fatima, Nisar Ahmed Shar
doaj +1 more source
SLC25A13 gene analysis in the family with a NICCD infant.
, 2014 The electrophoresis on the left illustrated the screening of the c.615+5G>A mutation by mean of a PCR-RFLP approach. The PCR products using the primer pair IVS5NF (5′-tgagggcttgttagatcaagat-3′) and IVS6NB (5′-ttacccagacaacaaattaacct-3′) were digested by ...
Yuan-Zong Song (460866) +6 more
core +1 more source