TY - JOUR AU - Wanders, R. J. AU - L, I. J. AU - Poggi, F. AU - Bonnefont, J. P. AU - Munnich, A. AU - Brivet, M. AU - Rabier, D. AU - Saudubray, J. M. PY - 1992 DA - 1992// TI - Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation JO - Biochem Biophys Res Commun VL - 188 UR - https://doi.org/10.1016/0006-291X(92)91350-Y DO - 10.1016/0006-291X(92)91350-Y ID - Wanders1992 ER - TY - JOUR AU - Wanders, R. J. AU - Duran, M. AU - Ijlst, L. AU - de Jager, J. P. AU - van Gennip, A. H. AU - Jakobs, C. AU - Dorland, L. AU - van Sprang, F. J. PY - 1989 DA - 1989// TI - Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase JO - Lancet VL - 2 UR - https://doi.org/10.1016/S0140-6736(89)90300-0 DO - 10.1016/S0140-6736(89)90300-0 ID - Wanders1989 ER - TY - STD TI - AWMF. Neugeborenen-Screening auf angeborene Stoffwechselstörungen und Endokrinopathien. 2010. http://www.awmf.org. UR - http://www.awmf.org ID - ref3 ER - TY - JOUR AU - Ushikubo, S. AU - Aoyama, T. AU - Kamijo, T. AU - Wanders, R. J. AU - Rinaldo, P. AU - Vockley, J. AU - Hashimoto, T. PY - 1996 DA - 1996// TI - Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits JO - Am J Hum Genet VL - 58 ID - Ushikubo1996 ER - TY - JOUR AU - Weinberger, M. J. AU - Rinaldo, P. AU - Strauss, A. W. AU - Bennett, M. J. PY - 1995 DA - 1995// TI - Intact alpha-subunit is required for membrane-binding of human mitochondrial trifunctional beta-oxidation protein, but is not necessary for conferring 3-ketoacyl-CoA thiolase activity to the beta-subunit JO - Biochem Biophys Res Commun VL - 209 UR - https://doi.org/10.1006/bbrc.1995.1468 DO - 10.1006/bbrc.1995.1468 ID - Weinberger1995 ER - TY - JOUR AU - Jackson, S. AU - Kler, R. S. AU - Bartlett, K. AU - Briggs, H. AU - Bindoff, L. A. AU - Pourfarzam, M. AU - Gardner-Medwin, D. AU - Turnbull, D. M. PY - 1992 DA - 1992// TI - Combined enzyme defect of mitochondrial fatty acid oxidation JO - J Clin Invest VL - 90 UR - https://doi.org/10.1172/JCI115983 DO - 10.1172/JCI115983 ID - Jackson1992 ER - TY - JOUR AU - Spiekerkoetter, U. AU - Khuchua, Z. AU - Yue, Z. AU - Bennett, M. J. AU - Strauss, A. W. PY - 2004 DA - 2004// TI - General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover JO - Pediatr Res VL - 55 UR - https://doi.org/10.1203/01.PDR.0000103931.80055.06 DO - 10.1203/01.PDR.0000103931.80055.06 ID - Spiekerkoetter2004 ER - TY - JOUR AU - den Boer, M. E. AU - Ijlst, L. AU - Wijburg, F. A. AU - Oostheim, W. AU - van Werkhoven, M. A. AU - van Pampus, M. G. AU - Heymans, H. S. AU - Wanders, R. J. PY - 2000 DA - 2000// TI - Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low JO - Pediatr Res VL - 48 UR - https://doi.org/10.1203/00006450-200008000-00006 DO - 10.1203/00006450-200008000-00006 ID - den Boer2000 ER - TY - JOUR AU - Karall, D. AU - Brunner-Krainz, M. AU - Kogelnig, K. AU - Konstantopoulou, V. AU - Maier, E. M. AU - Moslinger, D. AU - Plecko, B. AU - Sperl, W. AU - Volkmar, B. AU - Scholl-Burgi, S. PY - 2015 DA - 2015// TI - Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with long-chain 3-Hydroxy acyl CoA dehydrogenase deficiency (LCHADD) JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-015-0236-7 DO - 10.1186/s13023-015-0236-7 ID - Karall2015 ER - TY - JOUR AU - Sykut-Cegielska, J. AU - Gradowska, W. AU - Piekutowska-Abramczuk, D. AU - Andresen, B. S. AU - Olsen, R. K. AU - Oltarzewski, M. AU - Pronicki, M. AU - Pajdowska, M. AU - Bogdanska, A. AU - Jablonska, E. PY - 2011 DA - 2011// TI - Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening JO - J Inherit Metab Dis VL - 34 UR - https://doi.org/10.1007/s10545-010-9244-x DO - 10.1007/s10545-010-9244-x ID - Sykut-Cegielska2011 ER - TY - JOUR AU - Gillingham, M. AU - Van Calcar, S. AU - Ney, D. AU - Wolff, J. AU - Harding, C. PY - 1999 DA - 1999// TI - Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey JO - J Inherit Metab Dis VL - 22 UR - https://doi.org/10.1023/A:1005437616934 DO - 10.1023/A:1005437616934 ID - Gillingham1999 ER - TY - STD TI - Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 2009; 32:498–505. ID - ref12 ER - TY - JOUR AU - Karall, D. AU - Mair, G. AU - Albrecht, U. AU - Niedermayr, K. AU - Karall, T. AU - Schobersberger, W. AU - Scholl-Burgi, S. PY - 2014 DA - 2014// TI - Sports in LCHAD deficiency: maximal incremental and endurance exercise tests in a 13-year-old patient with long-chain 3-Hydroxy acyl-CoA dehydrogenase deficiency (LCHADD) and Heptanoate treatment JO - JIMD Rep VL - 17 UR - https://doi.org/10.1007/8904_2014_313 DO - 10.1007/8904_2014_313 ID - Karall2014 ER - TY - JOUR AU - De Biase, I. AU - Viau, K. S. AU - Liu, A. AU - Yuzyuk, T. AU - Botto, L. D. AU - Pasquali, M. AU - Longo, N. PY - 2017 DA - 2017// TI - Diagnosis, treatment, and clinical outcome of patients with mitochondrial trifunctional protein/long-chain 3-Hydroxy acyl-CoA dehydrogenase deficiency JO - JIMD Rep VL - 31 UR - https://doi.org/10.1007/8904_2016_558 DO - 10.1007/8904_2016_558 ID - De Biase2017 ER - TY - JOUR AU - Jones, P. M. AU - Bennett, M. J. PY - 2002 DA - 2002// TI - The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry JO - Clin Chim Acta VL - 324 UR - https://doi.org/10.1016/S0009-8981(02)00238-3 DO - 10.1016/S0009-8981(02)00238-3 ID - Jones2002 ER - TY - STD TI - American College of Medical Genetics Newborn Screening Act Sheets and Confirmatory Algorithms 2009. ID - ref16 ER - TY - JOUR AU - Sweetman, L. AU - Millington, D. S. AU - Therrell, B. L. AU - Hannon, W. H. AU - Popovich, B. AU - Watson, M. S. AU - Mann, M. Y. AU - Lloyd-Puryear, M. A. AU - van Dyck, P. C. PY - 2006 DA - 2006// TI - Naming and counting disorders (conditions) included in newborn screening panels JO - Pediatrics VL - 117 UR - https://doi.org/10.1542/peds.2005-2633J DO - 10.1542/peds.2005-2633J ID - Sweetman2006 ER - TY - JOUR AU - Sander, J. AU - Sander, S. AU - Steuerwald, U. AU - Janzen, N. AU - Peter, M. AU - Wanders, R. J. AU - Marquardt, I. AU - Korenke, G. C. AU - Das, A. M. PY - 2005 DA - 2005// TI - Neonatal screening for defects of the mitochondrial trifunctional protein JO - Mol Genet Metab VL - 85 UR - https://doi.org/10.1016/j.ymgme.2005.02.002 DO - 10.1016/j.ymgme.2005.02.002 ID - Sander2005 ER - TY - JOUR AU - Kasper, D. C. AU - Ratschmann, R. AU - Metz, T. F. AU - Mechtler, T. P. AU - Moslinger, D. AU - Konstantopoulou, V. AU - Item, C. B. AU - Pollak, A. AU - Herkner, K. R. PY - 2010 DA - 2010// TI - The national Austrian newborn screening program - eight years experience with mass spectrometry. Past, present, and future goals JO - Wien Klin Wochenschr VL - 122 UR - https://doi.org/10.1007/s00508-010-1457-3 DO - 10.1007/s00508-010-1457-3 ID - Kasper2010 ER - TY - JOUR AU - Spiekerkoetter, U. AU - Haussmann, U. AU - Mueller, M. AU - ter Veld, F. AU - Stehn, M. AU - Santer, R. AU - Lukacs, Z. PY - 2010 DA - 2010// TI - Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing JO - J Pediatr VL - 157 UR - https://doi.org/10.1016/j.jpeds.2010.04.063 DO - 10.1016/j.jpeds.2010.04.063 ID - Spiekerkoetter2010 ER - TY - JOUR AU - Spiekerkoetter, U. AU - Mueller, M. AU - Sturm, M. AU - Hofmann, M. AU - Schneider, D. T. PY - 2012 DA - 2012// TI - Lethal undiagnosed very long-chain acyl-CoA dehydrogenase deficiency with mild C14-Acylcarnitine abnormalities on newborn screening JO - JIMD Rep VL - 6 UR - https://doi.org/10.1007/8904_2012_129 DO - 10.1007/8904_2012_129 ID - Spiekerkoetter2012 ER - TY - JOUR AU - Schymik, I. AU - Liebig, M. AU - Mueller, M. AU - Wendel, U. AU - Mayatepek, E. AU - Strauss, A. W. AU - Wanders, R. J. AU - Spiekerkoetter, U. PY - 2006 DA - 2006// TI - Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry JO - J Pediatr VL - 149 UR - https://doi.org/10.1016/j.jpeds.2006.02.037 DO - 10.1016/j.jpeds.2006.02.037 ID - Schymik2006 ER - TY - JOUR AU - Ficicioglu, C. AU - Coughlin, C. R. AU - Bennett, M. J. AU - Yudkoff, M. PY - 2010 DA - 2010// TI - Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry JO - J Pediatr VL - 156 UR - https://doi.org/10.1016/j.jpeds.2009.10.031 DO - 10.1016/j.jpeds.2009.10.031 ID - Ficicioglu2010 ER - TY - JOUR AU - Sahai, I. AU - Bailey, J. C. AU - Eaton, R. B. AU - Zytkovicz, T. AU - Harris, D. J. PY - 2011 DA - 2011// TI - A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen JO - J Pediatr VL - 158 UR - https://doi.org/10.1016/j.jpeds.2010.09.026 DO - 10.1016/j.jpeds.2010.09.026 ID - Sahai2011 ER - TY - JOUR AU - Estrella, J. AU - Wilcken, B. AU - Carpenter, K. AU - Bhattacharya, K. AU - Tchan, M. AU - Wiley, V. PY - 2014 DA - 2014// TI - Expanded newborn screening in New South Wales: missed cases JO - J Inherit Metab Dis VL - 37 UR - https://doi.org/10.1007/s10545-014-9727-2 DO - 10.1007/s10545-014-9727-2 ID - Estrella2014 ER - TY - JOUR AU - Feuchtbaum, L. AU - Lorey, F. AU - Faulkner, L. AU - Sherwin, J. AU - Currier, R. AU - Bhandal, A. AU - Cunningham, G. PY - 2006 DA - 2006// TI - California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry JO - Pediatrics VL - 117 UR - https://doi.org/10.1542/peds.2005-2633E DO - 10.1542/peds.2005-2633E ID - Feuchtbaum2006 ER - TY - JOUR AU - Chace, D. H. AU - Kalas, T. A. AU - Naylor, E. W. PY - 2003 DA - 2003// TI - Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns JO - Clin Chem VL - 49 UR - https://doi.org/10.1373/clinchem.2003.022178 DO - 10.1373/clinchem.2003.022178 ID - Chace2003 ER - TY - STD TI - Kinder-Richtlinie des Gemeinsamen Bundesausschusses über die Früherkennung von Krankheiten bei Kindern. Bundesanzeiger AT. 2017. www.bundesanzeiger.de. UR - http://www.bundesanzeiger.de ID - ref28 ER - TY - JOUR AU - Jones, P. M. AU - Bennett, M. J. PY - 2010 DA - 2010// TI - Urine organic acid analysis for inherited metabolic disease using gas chromatography-mass spectrometry JO - Methods Mol Biol VL - 603 UR - https://doi.org/10.1007/978-1-60761-459-3_41 DO - 10.1007/978-1-60761-459-3_41 ID - Jones2010 ER - TY - JOUR AU - Venizelos, N. AU - Ijlst, L. AU - Wanders, R. J. PY - 1994 DA - 1994// TI - Hagenfeldt L. beta-oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria JO - Pediatr Res VL - 36 UR - https://doi.org/10.1203/00006450-199407001-00020 DO - 10.1203/00006450-199407001-00020 ID - Venizelos1994 ER - TY - JOUR AU - Wanders, R. J. AU - L, I. J. AU - van Gennip, A. H. AU - Jakobs, C. AU - de Jager, J. P. AU - Dorland, L. AU - van Sprang, F. J. AU - Duran, M. PY - 1990 DA - 1990// TI - Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation JO - J Inherit Metab Dis VL - 13 UR - https://doi.org/10.1007/BF01799383 DO - 10.1007/BF01799383 ID - Wanders1990 ER - TY - JOUR AU - Jlst, L. AU - Ruiter, J. P. AU - Hoovers, J. M. AU - Jakobs, M. E. AU - Wanders, R. J. PY - 1996 DA - 1996// TI - Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene JO - J Clin Invest VL - 98 UR - https://doi.org/10.1172/JCI118863 DO - 10.1172/JCI118863 ID - Jlst1996 ER - TY - JOUR AU - Tyni, T. AU - Palotie, A. AU - Viinikka, L. AU - Valanne, L. AU - Salo, M. K. AU - von Dobeln, U. AU - Jackson, S. AU - Wanders, R. AU - Venizelos, N. AU - Pihko, H. PY - 1997 DA - 1997// TI - Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients JO - J Pediatr VL - 130 UR - https://doi.org/10.1016/S0022-3476(97)70312-3 DO - 10.1016/S0022-3476(97)70312-3 ID - Tyni1997 ER - TY - JOUR AU - Tyni, T. AU - Rapola, J. AU - Paetau, A. AU - Palotie, A. AU - Pihko, H. PY - 1997 DA - 1997// TI - Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation JO - Pediatr Pathol Lab Med VL - 17 UR - https://doi.org/10.1080/15513819709168585 DO - 10.1080/15513819709168585 ID - Tyni1997 ER - TY - JOUR AU - Purevsuren, J. AU - Fukao, T. AU - Hasegawa, Y. AU - Fukuda, S. AU - Kobayashi, H. AU - Yamaguchi, S. PY - 2008 DA - 2008// TI - Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency JO - Mol Genet Metab VL - 95 UR - https://doi.org/10.1016/j.ymgme.2008.06.013 DO - 10.1016/j.ymgme.2008.06.013 ID - Purevsuren2008 ER - TY - JOUR AU - Vorechovsky, I. PY - 2010 DA - 2010// TI - Transposable elements in disease-associated cryptic exons JO - Hum Genet VL - 127 UR - https://doi.org/10.1007/s00439-009-0752-4 DO - 10.1007/s00439-009-0752-4 ID - Vorechovsky2010 ER - TY - JOUR AU - Couce, M. L. AU - Lopez-Suarez, O. AU - Boveda, M. D. AU - Castineiras, D. E. AU - Cocho, J. A. AU - Garcia-Villoria, J. AU - Castro-Gago, M. AU - Fraga, J. M. AU - Ribes, A. PY - 2013 DA - 2013// TI - Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis JO - Eur J Paediatr Neurol VL - 17 UR - https://doi.org/10.1016/j.ejpn.2013.01.003 DO - 10.1016/j.ejpn.2013.01.003 ID - Couce2013 ER - TY - JOUR AU - Dietzen, D. J. AU - Rinaldo, P. AU - Whitley, R. J. AU - Rhead, W. J. AU - Hannon, W. H. AU - Garg, U. C. AU - Lo, S. F. AU - Bennett, M. J. PY - 2009 DA - 2009// TI - National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary JO - Clin Chem VL - 55 UR - https://doi.org/10.1373/clinchem.2009.131300 DO - 10.1373/clinchem.2009.131300 ID - Dietzen2009 ER - TY - CHAP PY - 2009 DA - 2009// TI - Newborn screening for preterm, low birth weight, and sick newborns; approved guideline BT - CLSI document NBS03-A ID - ref39 ER - TY - JOUR AU - Mandour, I. AU - El Gayar, D. AU - Amin, M. AU - Farid, T. M. AU - Ali, A. A. PY - 2013 DA - 2013// TI - Amino acid and acylcarnitine profiles in premature neonates: a pilot study JO - Indian J Pediatr VL - 80 UR - https://doi.org/10.1007/s12098-013-0980-4 DO - 10.1007/s12098-013-0980-4 ID - Mandour2013 ER - TY - JOUR AU - Meyburg, J. AU - Schulze, A. AU - Kohlmueller, D. AU - Linderkamp, O. AU - Mayatepek, E. PY - 2001 DA - 2001// TI - Postnatal changes in neonatal acylcarnitine profile JO - Pediatr Res VL - 49 UR - https://doi.org/10.1203/00006450-200101000-00024 DO - 10.1203/00006450-200101000-00024 ID - Meyburg2001 ER - TY - JOUR AU - Gucciardi, A. AU - Zaramella, P. AU - Costa, I. AU - Pirillo, P. AU - Nardo, D. AU - Naturale, M. AU - Chiandetti, L. AU - Giordano, G. PY - 2015 DA - 2015// TI - Analysis and interpretation of acylcarnitine profiles in dried blood spot and plasma of preterm and full-term newborns JO - Pediatr Res VL - 77 UR - https://doi.org/10.1038/pr.2014.142 DO - 10.1038/pr.2014.142 ID - Gucciardi2015 ER - TY - JOUR AU - Treem, W. R. AU - Rinaldo, P. AU - Hale, D. E. AU - Stanley, C. A. AU - Millington, D. S. AU - Hyams, J. S. AU - Jackson, S. AU - Turnbull, D. M. PY - 1994 DA - 1994// TI - Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency JO - Hepatology VL - 19 ID - Treem1994 ER - TY - JOUR AU - Strauss, A. W. AU - Bennett, M. J. AU - Rinaldo, P. AU - Sims, H. F. AU - O'Brien, L. K. AU - Zhao, Y. AU - Gibson, B. AU - Ibdah, J. PY - 1999 DA - 1999// TI - Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications JO - Semin Perinatol VL - 23 UR - https://doi.org/10.1016/S0146-0005(99)80044-5 DO - 10.1016/S0146-0005(99)80044-5 ID - Strauss1999 ER - TY - JOUR AU - Shekhawat, P. AU - Bennett, M. J. AU - Sadovsky, Y. AU - Nelson, D. M. AU - Rakheja, D. AU - Strauss, A. W. PY - 2003 DA - 2003// TI - Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases JO - Am J Physiol Endocrinol Metab VL - 284 UR - https://doi.org/10.1152/ajpendo.00481.2002 DO - 10.1152/ajpendo.00481.2002 ID - Shekhawat2003 ER - TY - JOUR AU - Waisbren, S. E. AU - Albers, S. AU - Amato, S. AU - Ampola, M. AU - Brewster, T. G. AU - Demmer, L. AU - Eaton, R. B. AU - Greenstein, R. AU - Korson, M. AU - Larson, C. PY - 2003 DA - 2003// TI - Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress JO - JAMA VL - 290 UR - https://doi.org/10.1001/jama.290.19.2564 DO - 10.1001/jama.290.19.2564 ID - Waisbren2003 ER - TY - JOUR AU - Matern, D. AU - Tortorelli, S. AU - Oglesbee, D. AU - Gavrilov, D. AU - Rinaldo, P. PY - 2007 DA - 2007// TI - Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007) JO - J Inherit Metab Dis VL - 30 UR - https://doi.org/10.1007/s10545-007-0691-y DO - 10.1007/s10545-007-0691-y ID - Matern2007 ER -