Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Zhenzhu Zheng"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
ABSTRACT Background Newborn screening (NBS) for primary carnitine deficiency (PCD) has poor performance. This study aimed to evaluate the feasibility of incorporating next‐generation sequencing (NGS) as a second‐tier PCD test. Methods Between Mar
Externí odkaz:
https://doaj.org/article/0ae98d0428444a30af497efe952235f1
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101127- (2024)
Background and aims: 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal recessive leucine catabolism condition caused by 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency due to MCCC1/MCCC2 variants. We investigated its incidence
Externí odkaz:
https://doaj.org/article/1251bedb27f54d1aba3f5e99702759a9
Autor:
Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Peng
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23671- (2024)
Background and aims: Fatty acid oxidation disorders (FAODs) are a group of autosomal recessive metabolic diseases included in many newborn screening (NBS) programs, but the incidence and disease spectrum vary widely between ethnic groups. We aimed to
Externí odkaz:
https://doaj.org/article/6b76955ec05042ccbb7b77f3fb495f0b
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
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:
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
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect
Externí odkaz:
https://doaj.org/article/f5d856e569f748b4a52d4369e08c8b3b