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Page 1
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra… See abstract for full author list ➔ McHugh D, et al. Among authors: lindner m. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Chien YH, et al. Among authors: lindner m. Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Orphanet J Rare Dis. 2015. PMID: 26289392 Free PMC article. Review.
Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia.
Bonham JR, Carling RS, Lindner M, Franzson L, Zetterstrom R, Boemer F, Cerone R, Eyskens F, Vilarinho L, Hougaard DM, Schielen PCJI. Bonham JR, et al. Among authors: lindner m. Int J Neonatal Screen. 2018 Feb 10;4(1):8. doi: 10.3390/ijns4010008. eCollection 2018 Mar. Int J Neonatal Screen. 2018. PMID: 33072934 Free PMC article.
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Lindner M, et al. J Inherit Metab Dis. 2004;27(6):851-9. doi: 10.1023/B:BOLI.0000045769.96657.af. J Inherit Metab Dis. 2004. PMID: 15505392 Review.
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.
Schulze-Bergkamen A, Okun JG, Spiekerkötter U, Lindner M, Haas D, Kohlmüller D, Mayatepek E, Schulze-Bergkamen H, Greenberg CR, Zschocke J, Hoffmann GF, Kölker S. Schulze-Bergkamen A, et al. Among authors: lindner m. Pediatr Res. 2005 Nov;58(5):873-80. doi: 10.1203/01.PDR.0000181378.98593.3E. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183823
Expanded newborn screening in Europe 2007.
Bodamer OA, Hoffmann GF, Lindner M. Bodamer OA, et al. Among authors: lindner m. J Inherit Metab Dis. 2007 Aug;30(4):439-44. doi: 10.1007/s10545-007-0666-z. Epub 2007 Jul 23. J Inherit Metab Dis. 2007. PMID: 17643197
Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population.
Sommerburg O, Lindner M, Muckenthaler M, Kohlmueller D, Leible S, Feneberg R, Kulozik AE, Mall MA, Hoffmann GF. Sommerburg O, et al. Among authors: lindner m. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S263-71. doi: 10.1007/s10545-010-9174-7. Epub 2010 Aug 17. J Inherit Metab Dis. 2010. PMID: 20714932
636 results