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Year Number of Results
1999 2
2002 1
2003 1
2011 1
2013 1
2015 1
2017 1
2018 1
2019 1
2020 1
2021 1
2023 0

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11 results

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Page 1
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D, Motlagh L, Robaa D, Zierz S. Lehmann D, et al. Int J Mol Sci. 2017 Jan 3;18(1):82. doi: 10.3390/ijms18010082. Int J Mol Sci. 2017. PMID: 28054946 Free PMC article. Review.
CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty acid metabolism disorders. ...In contrast, it has also been shown that in muscle CPT II deficiency, CPT II protein is present in norm …
CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty acid metabolis …
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR, Zierz S. Joshi PR, et al. Molecules. 2020 Apr 13;25(8):1784. doi: 10.3390/molecules25081784. Molecules. 2020. PMID: 32295037 Free PMC article. Review.
CPT is present in two subforms: CPT I at the outer mitochondrial membrane and carnitine palmitoyltransferase II (CPT II) inside the mitochondria. Deficiency of CPT II results in the most common inherited disorder of long-chain fatty acid …
CPT is present in two subforms: CPT I at the outer mitochondrial membrane and carnitine palmitoyltransferase II (CPT …
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Tajima G, Hara K, Yuasa M. Tajima G, et al. J Hum Genet. 2019 Feb;64(2):87-98. doi: 10.1038/s10038-018-0530-z. Epub 2018 Dec 4. J Hum Genet. 2019. PMID: 30514913 Review.
Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder. ...Although it is still difficult to detect all cases of the muscle form of CPT II deficiency in NBS, our s …
Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid o …
Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature.
Mccormick BJ, Chirila RM. Mccormick BJ, et al. Rom J Intern Med. 2021 Nov 20;59(4):420-424. doi: 10.2478/rjim-2021-0021. Print 2021 Dec 1. Rom J Intern Med. 2021. PMID: 34118800 Free article. Review.
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. ...It is essential for clinicians to recognize the signs and symptoms of acute disease in CPT-II de …
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recur …
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
Sigauke E, Rakheja D, Kitson K, Bennett MJ. Sigauke E, et al. Lab Invest. 2003 Nov;83(11):1543-54. doi: 10.1097/01.lab.0000098428.51765.83. Lab Invest. 2003. PMID: 14615409 Free article. Review.
Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least 30 years now, and its phenotypic variability remains fascinating. ...We review the clinical features, the diagnostic protocol including expanded neonatal scree …
Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least 30 years now, and i …
Neonatal metabolic myopathies.
Tein I. Tein I. Semin Perinatol. 1999 Apr;23(2):125-51. doi: 10.1016/s0146-0005(99)80046-9. Semin Perinatol. 1999. PMID: 10331465 Review.
., acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; carnitine uptake and carnitine acylcarnitine translocase defects among the fatty acid oxidation (FAO) defects; and cytochrome oxidase deficiency among the mitochondri …
., acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; carnitine uptake and carnitine ac …
[Metabolic myopathies].
Papazian Ó, Rivas-Chacón R. Papazian Ó, et al. Rev Neurol. 2013 Sep 6;57 Suppl 1:S65-73. Rev Neurol. 2013. PMID: 23897158 Free article. Review. Spanish.
The conditions in the second group in order of decreasing frequency are the deficiencies of carnitine palmitoyl transferase II and very long chain acyl CoA dehydrogenase. ...
The conditions in the second group in order of decreasing frequency are the deficiencies of carnitine palmitoyl transferase …
The role of mitochondria in statin-induced myopathy.
Apostolopoulou M, Corsini A, Roden M. Apostolopoulou M, et al. Eur J Clin Invest. 2015 Jul;45(7):745-54. doi: 10.1111/eci.12461. Epub 2015 Jun 15. Eur J Clin Invest. 2015. PMID: 25991405 Free article. Review.
Some patients are susceptible to statin-induced myopathy due to variations in genes encoding proteins involved in statin uptake and biotransformation such as the solute carrier organic anion transporter family member 1B1 (SLCO1B1) or cytochrome P450 (CYP2D6, CYP3A4, CYP3A5). Carr …
Some patients are susceptible to statin-induced myopathy due to variations in genes encoding proteins involved in statin uptake and biotrans …
Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features.
Pierce MR, Pridjian G, Morrison S, Pickoff AS. Pierce MR, et al. Clin Pediatr (Phila). 1999 Jan;38(1):13-20. doi: 10.1177/000992289903800102. Clin Pediatr (Phila). 1999. PMID: 9924637 Review.
Fibroblast carnitine palmitoyltransferase II activity was reduced to 26% and 38% in the father and mother, respectively. ...Diffuse lipid accumulation was evident at autopsy, including in the liver, heart, kidney, adrenal cortex, skeletal muscle, and lungs. T …
Fibroblast carnitine palmitoyltransferase II activity was reduced to 26% and 38% in the father and mother, respectively …
[Genetic marker of statin-induced rhabdomyolysis].
Chiba K, Morimoto K. Chiba K, et al. Yakugaku Zasshi. 2011 Feb;131(2):247-53. doi: 10.1248/yakushi.131.247. Yakugaku Zasshi. 2011. PMID: 21297370 Free article. Review. Japanese.
In addition to SLCO1B1, recent studies suggested that variants of genes encoding transporters (ABCG2 and ABCB1) and metabolic enzymes (CYP2C8 and UGT1A3) involved in the disposition of statins, and those involved in the metabolic muscle disease (glycogen storage disorders, car …
In addition to SLCO1B1, recent studies suggested that variants of genes encoding transporters (ABCG2 and ABCB1) and metabolic enzymes (CYP2C …
11 results