Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Qingliu Fu"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to
Externí odkaz:
https://doaj.org/article/c08bc83234284ea583a2fc429935d36f
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (NBS) are scarce in
Externí odkaz:
https://doaj.org/article/1796682eb65647f8b42775dccb784608
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-3 (2022)
Externí odkaz:
https://doaj.org/article/193be9b0885844efae17a98809dbf16c
Autor:
Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background Newborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a second-tier genetic a
Externí odkaz:
https://doaj.org/article/5a805cd0270447d78aa38e5da86b5ca8
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-5 (2020)
Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autos
Externí odkaz:
https://doaj.org/article/cfbe9dbcbf3e4457a88f8d3eb13a5af4
Autor:
Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case present
Externí odkaz:
https://doaj.org/article/58e23da14ac64692bc95f375a6377a0f
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an inherited disorder of mitochondrial fatty acid β-oxidation that impairs fasting ketogenesis and gluconeogenesis in the liver. Few studies implementing newborn screening (NBS) for CPT1A defic
Externí odkaz:
https://doaj.org/article/7e9a8c9eb4cd465694b4ffde276aaf06
Autor:
Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene. Only a few Chinese patients with CTL
Externí odkaz:
https://doaj.org/article/ca1e7f820280430197a24048746d6ba7
Autor:
Yiming, Lin, Wenwei, Zheng, Yanru, Chen, Chenggang, Huang, Qingliu, Fu, Dongmei, Chen, Weilin, Peng
Publikováno v:
Clinica Chimica Acta. 537:181-187
Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensitivity. This study aimed to evaluate the feasibility of incorporating second-tier genetic screening for MADD.A total of 453,390 newborns were screened for inh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b2f253a64904020b126eac1cdb52d42
https://doi.org/10.1016/j.cca.2022.10.024
https://doi.org/10.1016/j.cca.2022.10.024
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL). Ornithine transcarbamylase de
Externí odkaz:
https://doaj.org/article/801726d4b7b6401096c5770d7486939f