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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 2
1986 1
1987 2
1988 2
1989 2
1990 3
1991 1
1992 3
1993 3
1994 3
1995 3
1996 3
1997 2
1998 7
1999 3
2000 5
2001 2
2002 3
2003 4
2004 4
2005 5
2006 7
2007 9
2008 5
2009 9
2010 11
2011 7
2012 7
2013 12
2014 16
2015 15
2016 7
2017 5
2018 10
2019 8
2024 0

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166 results

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Page 1
Disorders of pyruvate metabolism.
De Meirleir L. De Meirleir L. Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. Handb Clin Neurol. 2013. PMID: 23622387 Review.
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM. Medina-Kauwe LK, et al. Among authors: de meirleir l. J Inherit Metab Dis. 1999 Jun;22(4):414-27. doi: 10.1023/a:1005500122231. J Inherit Metab Dis. 1999. PMID: 10407778 Review.
Revised recommendations for the management of Gaucher disease in children.
Kaplan P, Baris H, De Meirleir L, Di Rocco M, El-Beshlawy A, Huemer M, Martins AM, Nascu I, Rohrbach M, Steinbach L, Cohen IJ. Kaplan P, et al. Among authors: de meirleir l. Eur J Pediatr. 2013 Apr;172(4):447-58. doi: 10.1007/s00431-012-1771-z. Epub 2012 Jul 8. Eur J Pediatr. 2013. PMID: 22772880 Review.
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K, et al. Dahl HH, et al. Among authors: de meirleir l. Hum Mutat. 1992;1(2):97-102. doi: 10.1002/humu.1380010203. Hum Mutat. 1992. PMID: 1301207 Review.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J. Parini R, et al. Among authors: de meirleir l. Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Acta Paediatr. 2018. PMID: 30242902 Free PMC article. Review.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Tegtmeyer LC, et al. Among authors: de meirleir l. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. N Engl J Med. 2014. PMID: 24499211 Free PMC article.
166 results