Associated Papers
Genomic sequencing enhances metabolic newborn screening in Thailand.
Kuptanon C et al.
Clinical Biochemistry, 2026
Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.
Yin Y et al.
Human Genomics, 2026
Neonatal genetic screening in Changsha: a multicenter study and preliminary findings.
He J et al.
Psychiatric Genetics, 2025
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.
Lin DF et al.
Bmc Medical Genomics, 2025
Hepatic encephalopathy in a 16-year-old girl: A case of adult-onset hereditary metabolic liver disease.
Guan X et al.
Journal of Hepatology, 2025
Genomic sequencing as a key primary recommendation for neonatal hyperbilirubinemia: a population-based multicenter study.
Huang D et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.
Jang MA et al.
Annals of Laboratory Medicine, 2025
Developing splice-switching oligonucleotides for urea cycle disorder using an integrated diagnostic and therapeutic platform.
Ow JR et al.
Journal of Hepatology, 2025
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes.
Zou Y et al.
Bmc Gastroenterology, 2025
Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.
Selamioğlu A et al.
The Turkish Journal of Pediatrics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.
Nguyen TT et al.
Scientific Reports, 2025
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.
Lacabanne D et al.
Journal of Inherited Metabolic Disease, 2025
Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.
Wang P et al.
Orphanet Journal of Rare Diseases, 2025
My path to citrin deficiency.
Walker JE
Journal of Inherited Metabolic Disease, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.
Li J et al.
Frontiers in Immunology, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age].
Hao N et al.
Zhonghua Fu Chan Ke Za Zhi, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders.
Okano M et al.
Molecular Genetics and Metabolism Reports, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency.
Lin H et al.
Discover Oncology, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.
Zhang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW et al.
Journal of Gastroenterology and Hepatology, 2024
[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].
Zhu X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 2024
Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment.
Suzuki T et al.
Internal Medicine (tokyo, Japan), 2024
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
Belaramani KM et al.
International Journal of Neonatal Screening, 2024
Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.
Lin J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.
Lai G et al.
Frontiers in Public Health, 2024
Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency.
Li J et al.
Frontiers in Pediatrics, 2024
Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report.
Liu J et al.
Medicine, 2023
The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.
Chen CY et al.
Pediatric Research, 2023
A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.
Sachs N et al.
Gene, 2023
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB et al.
The Journal of Pediatrics, 2023