Zobrazeno 1 - 10
of 502
pro vyhledávání: '"acidaemia"'
Publikováno v:
Resuscitation Plus, Vol 20, Iss , Pp 100809- (2024)
Background and objective: Acidaemia is common among individuals who experience out-of-hospital cardiac arrest (OHCA). While severe acidaemia is a strong predictor of unfavourable outcomes, a subset of patients exhibits dramatic recovery. Despite thes
Externí odkaz:
https://doaj.org/article/751a549d65034e3dae87b01c125ebc04
Publikováno v:
In Resuscitation Plus December 2024 20
Autor:
Khairy Abdella
Publikováno v:
Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-4 (2023)
Abstract Background Propionic acidaemia is among the rarest metabolic disorders described in the literatures. It has resulted from an inborn error in the catabolism of amino acids with an accumulation of organic acids as a consequence of this error.
Externí odkaz:
https://doaj.org/article/c6687206f95b4a2fad4f80a2941fcf52
Autor:
Stefan Schumann, Frank Risto Rommel, Serdar Cantez, Evdokia Alexanidou, Clemens Kamrath, Jan de Laffolie
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are very rare autosomal recessive inherited metabolic diseases from the group of organoacidopathies. Katabolism due to minor infections can lead to metabolic decompensation including hyperamm
Externí odkaz:
https://doaj.org/article/7c7e28127c6f4d75b1bb7f8d343fec3d
Publikováno v:
APIK Journal of Internal Medicine, Vol 10, Iss 4, Pp 242-249 (2022)
Background: According to the Global Burden of Disease 2018, chronic obstructive pulmonary disease (COPD) is the third-leading cause of death worldwide and in India COPD is the second leading cause of death among noncommunicable diseases. Tools to pre
Externí odkaz:
https://doaj.org/article/0923ad48e9944602a72d7c48ccc36c75
Akademický článek
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Autor:
Xingmiao Liu, Xinquan Liu, Wenxuan Fan, Zhongbin Zhang, Peiyuan Zhang, Xiaojun Liu, Meifang Lei, Qing Li, Xiaoli Yu, Dong Li
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundIsovaleric acidaemia (IVA), characterized by an acute metabolic crisis and psychomotor delay, is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD).MethodsWe report the case of a Chinese patient
Externí odkaz:
https://doaj.org/article/7494e15ebcfe4a64b9636fea8cdfba2a
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Methylmalonic acidaemia (MMA) and ornithine transcarbamylase deficiency (OTCD) are both intoxication-type inborn errors of metabolism (IEM). Presently, genetic testing is the primary method for prenatally diagnosing these diseases. However, some repo
Externí odkaz:
https://doaj.org/article/37787590bc87430ea03dd240ec695616
Autor:
Ying Liu, Ling Yang, Ruixue Shuai, Suqiu Huang, Bingyao Zhang, Lianshu Han, Kun Sun, Yurong Wu
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Methylmalonic acidaemia (MMA) has been reported to be associated with cardiovascular involvement, especially for the combined type with homocystinuria. We have screened 80 control subjects and 99 MMA patients (23 isolated type and 76 combined type) u
Externí odkaz:
https://doaj.org/article/c015691c62ed43c29c9993c839ab3a1f