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Journal Abstract Search

140 related items for PubMed ID: 10518286

  • 1. Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.
    Carpenter KH, Wilcken B.
    J Inherit Metab Dis; 1999 Oct; 22(7):840-1. PubMed ID: 10518286
    [No Abstract] [Full Text] [Related]

  • 2. Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.
    Skladal D, Sass JO, Geiger H, Geiger R, Mann C, Vreken P, Wanders RJ, Trawöger R.
    J Pediatr Gastroenterol Nutr; 2000 Oct; 31(4):448-52. PubMed ID: 11045847
    [No Abstract] [Full Text] [Related]

  • 3. Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Bennett MJ, Weinberger MJ, Sherwood WG, Burlina AB.
    J Inherit Metab Dis; 1994 Oct; 17(3):283-6. PubMed ID: 7807934
    [No Abstract] [Full Text] [Related]

  • 4. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.
    Wanders RJ, Ijlst L, Duran M, Jakobs C, de Klerk JB, Przyrembel H, Rocchiccioli F, Aubourg P.
    J Inherit Metab Dis; 1991 Oct; 14(3):325-8. PubMed ID: 1770784
    [No Abstract] [Full Text] [Related]

  • 5. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea.
    Thiel C, Baudach S, Schnackenberg U, Vreken P, Wanders RJ.
    J Inherit Metab Dis; 1999 Oct; 22(7):839-40. PubMed ID: 10518285
    [No Abstract] [Full Text] [Related]

  • 6. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.
    Sewell AC, Bender SW, Wirth S, Münterfering H, Ijlist L, Wanders RJ.
    Eur J Pediatr; 1994 Oct; 153(10):745-50. PubMed ID: 7813533
    [Abstract] [Full Text] [Related]

  • 7. Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
    Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T.
    Nutrients; 2021 Aug 24; 13(9):. PubMed ID: 34578803
    [Abstract] [Full Text] [Related]

  • 8. Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects.
    Divry P, Vianey-Saban C, Mathieu M.
    J Inherit Metab Dis; 1999 May 24; 22(3):286-8. PubMed ID: 10384388
    [No Abstract] [Full Text] [Related]

  • 9. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
    Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P.
    Clin Chem; 1995 Aug 24; 41(8 Pt 1):1109-14. PubMed ID: 7628085
    [Abstract] [Full Text] [Related]

  • 10. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
    Tyni T, Palotie A, Viinikka L, Valanne L, Salo MK, von Döbeln U, Jackson S, Wanders R, Venizelos N, Pihko H.
    J Pediatr; 1997 Jan 24; 130(1):67-76. PubMed ID: 9003853
    [Abstract] [Full Text] [Related]

  • 11. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
    Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, Strauss AW.
    Proc Natl Acad Sci U S A; 1995 Jan 31; 92(3):841-5. PubMed ID: 7846063
    [Abstract] [Full Text] [Related]

  • 12. Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Korenke GC, Wanders RJ, Hanefeld F.
    J Inherit Metab Dis; 2003 Jan 31; 26(1):67-8. PubMed ID: 12872842
    [Abstract] [Full Text] [Related]

  • 13. Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Hagenfeldt L, Venizelos N, von Döbeln U.
    J Inherit Metab Dis; 1995 Jan 31; 18(2):245-8. PubMed ID: 7564259
    [No Abstract] [Full Text] [Related]

  • 14. [Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency].
    Takusa Y, Yamaguchi S.
    Ryoikibetsu Shokogun Shirizu; 1998 Jan 31; (18 Pt 1):420-1. PubMed ID: 9590089
    [No Abstract] [Full Text] [Related]

  • 15. Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
    Harding CO, Gillingham MB, van Calcar SC, Wolff JA, Verhoeve JN, Mills MD.
    J Inherit Metab Dis; 1999 May 31; 22(3):276-80. PubMed ID: 10384386
    [No Abstract] [Full Text] [Related]

  • 16. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
    Lotz-Havla AS, Röschinger W, Schiergens K, Singer K, Karall D, Konstantopoulou V, Wortmann SB, Maier EM.
    Orphanet J Rare Dis; 2018 Jul 20; 13(1):122. PubMed ID: 30029694
    [Abstract] [Full Text] [Related]

  • 17. Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases.
    Wasant P, Matsumoto I, Naylor E, Liammongkolkul S.
    J Med Assoc Thai; 2002 Aug 20; 85 Suppl 2():S710-9. PubMed ID: 12403251
    [Abstract] [Full Text] [Related]

  • 18. Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.
    Matern D, Strauss AW, Hillman SL, Mayatepek E, Millington DS, Trefz FK.
    Pediatr Res; 1999 Jul 20; 46(1):45-9. PubMed ID: 10400133
    [Abstract] [Full Text] [Related]

  • 19. Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.
    Gillingham M, Van Calcar S, Ney D, Wolff J, Harding C.
    J Inherit Metab Dis; 1999 Apr 20; 22(2):123-31. PubMed ID: 10234607
    [Abstract] [Full Text] [Related]

  • 20. Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
    Lawlor DP, Kalina RE.
    Am J Ophthalmol; 1997 Jun 20; 123(6):846-8. PubMed ID: 9535636
    [Abstract] [Full Text] [Related]

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