Zobrazeno 1 - 10
of 132
pro vyhledávání: '"PCCB"'
Autor:
Alba Arboix-Alió, Oriol Ventura Rodà
Publikováno v:
Religions, Vol 15, Iss 8, p 922 (2024)
The internationalization of specialized healthcare emphasizes multiculturalism, requiring adaptable hospital spaces. Sant Joan de Déu (SJD), a leading pediatric hospital managed by a Christian order, has created a multifaith room for prayer and medi
Externí odkaz:
https://doaj.org/article/042ac85b09f94f2d981350bc44709fac
Autor:
Yixing Zhang, Chuwen Peng, Lifang Wang, Sitong Chen, Junwei Wang, Ziheng Tian, Chuangong Wang, Xiaoxin Chen, Suhong Zhu, Guo-Fang Zhang, You Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-21 (2023)
Abstract Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hydroxypropionate can be used to
Externí odkaz:
https://doaj.org/article/869051068cf243b2a4e0e3642aacae3d
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-9 (2022)
Abstract Background Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by mutations in the PCCA or PCCB gene, leading to propionyl CoA carboxylase (PCC) enzyme deficiencies. Most PA patients present variable clinical
Externí odkaz:
https://doaj.org/article/fdd0ad27828244e5a32df9b0d8391119
Autor:
Yi Liu, Zhehui Chen, Hui Dong, Yuan Ding, Ruxuan He, Lulu Kang, Dongxiao Li, Ming Shen, Ying Jin, Yao Zhang, Jinqing Song, Yaping Tian, Yongtong Cao, Desheng Liang, Yanling Yang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded by the PCCA and PCCB genes. The aim of the study was to investigate the clinical features and outcome
Externí odkaz:
https://doaj.org/article/e9538ad406b547aba2de3f8d73a34bf5
Akademický článek
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Akademický článek
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Autor:
Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, Lorenzo Ferri, Renzo Guerrini, Amelia Morrone
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
Abstract We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the p
Externí odkaz:
https://doaj.org/article/fc5ab83a26d843f794c59740debf6027
Autor:
Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng, Xin Fan
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either of the two genes PCCA
Externí odkaz:
https://doaj.org/article/d3fba1a78d094d2d809cb630bafa1937
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare.Methods: Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and clinic
Externí odkaz:
https://doaj.org/article/1f8380454bf1432db54af29add808bfd
Akademický článek
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