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Journal Abstract Search

226 related items for PubMed ID: 32129275

  • 1. Fever, Fasting, and Rhabdomyolysis in an Adult Male.
    Shukla SG, Verma A.
    Neurol India; 2020; 68(1):182-184. PubMed ID: 32129275
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  • 4. L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.
    Madsen KL, Preisler N, Rasmussen J, Hedermann G, Olesen JH, Lund AM, Vissing J.
    J Clin Endocrinol Metab; 2018 Dec 01; 103(12):4580-4588. PubMed ID: 30219858
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  • 5. Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.
    Akar HT, Yıldız Y, Mutluay R, Tekin E, Tokatlı A.
    CEN Case Rep; 2024 Apr 01; 13(2):81-85. PubMed ID: 37341884
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  • 6. Carnitine Inborn Errors of Metabolism.
    Almannai M, Alfadhel M, El-Hattab AW.
    Molecules; 2019 Sep 06; 24(18):. PubMed ID: 31500110
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  • 7. State of the art in muscle lipid diseases.
    Liang WC, Nishino I.
    Acta Myol; 2010 Oct 06; 29(2):351-6. PubMed ID: 21314018
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  • 9. Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
    Lehmann D, Motlagh L, Robaa D, Zierz S.
    Int J Mol Sci; 2017 Jan 03; 18(1):. PubMed ID: 28054946
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  • 11. Postinfectious Rhabdomyolysis in a 5-Year-Old Boy: When to Look a Little Deeper.
    Garoufi A, Vartzelis G, Kossiva L, Katsarou E, Soldatou A.
    Pediatr Emerg Care; 2015 Dec 03; 31(12):851-2. PubMed ID: 25513977
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  • 14. Disorders of lipid metabolism in muscle.
    Di Mauro S, Trevisan C, Hays A.
    Muscle Nerve; 1980 Dec 03; 3(5):369-88. PubMed ID: 7421873
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  • 17. 3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.
    Ziats CA, Burns WB, Tedder ML, Pollard L, Wood T, Champaigne NL.
    Eur J Med Genet; 2021 Dec 03; 64(12):104365. PubMed ID: 34637945
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  • 18. Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
    Purevsuren J, Kobayashi H, Hasegawa Y, Yamada K, Takahashi T, Takayanagi M, Fukao T, Fukuda S, Yamaguchi S.
    Anal Bioanal Chem; 2013 Feb 03; 405(4):1345-51. PubMed ID: 23143007
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  • 19. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
    Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR.
    Hum Mutat; 2019 Oct 03; 40(10):1899-1904. PubMed ID: 31187905
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