Zobrazeno 1 - 10
of 193
pro vyhledávání: '"Carnitine palmitoyltransferase II deficiency"'
Autor:
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 62 (2023)
Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more
Externí odkaz:
https://doaj.org/article/e55e3a9b95ee4057b002d6fe371edfd1
Publikováno v:
Romanian Journal of Internal Medicine, Vol 59, Iss 4, Pp 420-424 (2021)
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further e
Externí odkaz:
https://doaj.org/article/54e9a29cbb3a4ba9b08e85c602d0b9b7
Akademický článek
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Autor:
Ryosuke Bo, Ikuma Musha, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hiroyuki Awano, Masato Arao, Toru Kikuchi, Takeshi Taketani, Akira Ohtake, Seiji Yamaguchi, Kazumoto Iijima
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100611- (2020)
In Japan, carnitine palmitoyltransferase II (CPTII) deficiency has been included as one of the primary target diseases in the expanded newborn mass screening program since 2018. However, many cases of the severe infantile hepatocardiomuscular form of
Externí odkaz:
https://doaj.org/article/648da91c2b0e415b87c3fbf0b6e34607
Publikováno v:
Romanian Journal of Internal Medicine, Vol 59, Iss 4, Pp 420-424 (2021)
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further e
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disorder of long-chain fatty acid metabolism. It is typically associated with recurrent episodes of exercise-induced rhabdomyolysis and myoglobinuria, in mo
Externí odkaz:
https://doaj.org/article/3beaa37bd31e4b678bbc921b4c535257
Autor:
Takuma Yamamoto, Hiroyuki Mishima, Hajime Mizukami, Yuki Fukahori, Takahiro Umehara, Takehiko Murase, Masamune Kobayashi, Shinjiro Mori, Tomonori Nagai, Tatsushige Fukunaga, Seiji Yamaguchi, Koh-ichiro Yoshiura, Kazuya Ikematsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 26-32 (2015)
The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinati
Externí odkaz:
https://doaj.org/article/f06cea9104c14fbcb7e234bf5a6a64e5
Publikováno v:
Annals of Indian Academy of Neurology, Vol 17, Iss 4, Pp 437-440 (2014)
Metabolic myopathies due to disorders of lipid metabolism are a heterogeneous group of diseases. Newborns may present with hypotonia and convulsions, while progressive proximal muscle weakness or recurrent episodes of muscle weakness accompanied by r
Externí odkaz:
https://doaj.org/article/d289a6f132c1470fa2dca2f7bbc3384a
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 6, p 1400 (2019)
Fibroblast growth factor 21 (FGF-21) is known to be a biomarker for mitochondrial disorders. An upregulation of FGF-21 in serum and muscle of carnitine palmitoyltransferase I (CPT I) and carnitine palmitoyltransferase II (CPT II) knock-out mice has b
Externí odkaz:
https://doaj.org/article/45ebfa55257b4bcaa85b768e5db15f09
Publikováno v:
EXCLI Journal
Carnitine palmitoyltransferase II (CPT II) deficiency represents an inherited defect in mitochondrial long-chain fatty acid oxidation. Rhabdomyolysis with necrosis of muscle is caused by the destruction of skeletal muscle and leads to systemic, multi