These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 25506168)

  • 1. Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases.
    Topçu Y; Bayram E; Karaoğlu P; Yiş U; Kurul SH
    Ann Indian Acad Neurol; 2014 Oct; 17(4):437-40. PubMed ID: 25506168
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
    Hisahara S; Matsushita T; Furuyama H; Tajima G; Shigematsu Y; Imai T; Shimohama S
    Tohoku J Exp Med; 2015 Apr; 235(4):305-10. PubMed ID: 25843429
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].
    Shiraishi W; Tateishi T; Hayashida S; Tajima G; Tsumura M; Isobe N
    Rinsho Shinkeigaku; 2023 Oct; 63(10):656-660. PubMed ID: 37779023
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
    Yuasa M; Hata I; Sugihara K; Isozaki Y; Ohshima Y; Hara K; Tajima G; Shigematsu Y
    Dis Markers; 2019; 2019():2984747. PubMed ID: 30881520
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
    Wood JC; Magera MJ; Rinaldo P; Seashore MR; Strauss AW; Friedman A
    Pediatrics; 2001 Jul; 108(1):E19. PubMed ID: 11433098
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Very-long-chain acyl-CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult].
    Hamano H; Shinohara Y; Takizawa S; Tokuoka K; Kazahari S; Mandokoro H; Sato A
    Rinsho Shinkeigaku; 2003 May; 43(5):253-7. PubMed ID: 12931630
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.
    Çakar NE; Gör Z; Yeşil G
    Ideggyogy Sz; 2021 Mar; 74(3-4):135-138. PubMed ID: 33938664
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
    Laforêt P; Acquaviva-Bourdain C; Rigal O; Brivet M; Penisson-Besnier I; Chabrol B; Chaigne D; Boespflug-Tanguy O; Laroche C; Bedat-Millet AL; Behin A; Delevaux I; Lombès A; Andresen BS; Eymard B; Vianey-Saban C
    Neuromuscul Disord; 2009 May; 19(5):324-9. PubMed ID: 19327992
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.
    Lu CH; Yang CF; Chen YR; Chen YJ; Lu YH; Niu DM
    Mol Genet Metab Rep; 2024 Dec; 41():101151. PubMed ID: 39429887
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
    Yazıcı H; Ak G; Çelik MY; Erdem F; Yanbolu AY; Er E; Bozacı AE; Güvenç MS; Aykut A; Durmaz A; Canda E; Uçar SK; Çoker M
    J Pediatr Endocrinol Metab; 2024 Jan; 37(1):33-41. PubMed ID: 37925743
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Neonatal metabolic myopathies.
    Tein I
    Semin Perinatol; 1999 Apr; 23(2):125-51. PubMed ID: 10331465
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the
    Labella B; Lanzi G; Cotti Piccinelli S; Caria F; Damioli S; Risi B; Bertella E; Poli L; Padovani A; Filosto M
    Brain Sci; 2023 Aug; 13(8):. PubMed ID: 37626534
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
    Béhin A; Acquaviva-Bourdain C; Souvannanorath S; Streichenberger N; Attarian S; Bassez G; Brivet M; Fouilhoux A; Labarre-Villa A; Laquerrière A; Pérard L; Kaminsky P; Pouget J; Rigal O; Vanhulle C; Eymard B; Vianey-Saban C; Laforêt P
    Rev Neurol (Paris); 2016 Mar; 172(3):231-41. PubMed ID: 27038534
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [A case of very-long-chain acyl-CoA dehydrogenase deficiency with adolescent onset being diagnosed by immunostain of biopsy muscle].
    Sakata N; Kawai M; Morimatsu M; Oohashi Y; Nishino I; Hasegawa Y; Yamaguchi S
    Rinsho Shinkeigaku; 2003 Sep; 43(9):568-70. PubMed ID: 14727566
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
    Shchelochkov O; Wong LJ; Shaibani A; Shinawi M
    Muscle Nerve; 2009 Mar; 39(3):374-82. PubMed ID: 19208414
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.
    Watanabe K; Yamada K; Sameshima K; Yamaguchi S
    Mol Genet Metab Rep; 2018 Jun; 15():121-123. PubMed ID: 30023301
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Differences between acylcarnitine profiles in plasma and bloodspots.
    de Sain-van der Velden MG; Diekman EF; Jans JJ; van der Ham M; Prinsen BH; Visser G; Verhoeven-Duif NM
    Mol Genet Metab; 2013; 110(1-2):116-21. PubMed ID: 23639448
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
    Spiekerkoetter U; Haussmann U; Mueller M; ter Veld F; Stehn M; Santer R; Lukacs Z
    J Pediatr; 2010 Oct; 157(4):668-73. PubMed ID: 20547398
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis].
    Aoyama T; Yazawa I; Sugie H; Shigematsu Y; Sakura N; Nakase H
    No To Shinkei; 2004 Jan; 56(1):64-8. PubMed ID: 15024832
    [TBL] [Abstract][Full Text] [Related]  

  • 20. From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency.
    Marques C; Silva C; Silva C; Abreu JP; Ribeiro M; Guimas A
    Arch Clin Cases; 2023; 10(1):42-46. PubMed ID: 37056952
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.