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

Year Number of Results
1974 1
1978 1
1979 1
1984 2
1985 1
1986 1
1988 1
1998 3
1999 1
2000 2
2002 1
2003 3
2004 5
2005 3
2006 2
2007 6
2008 7
2009 6
2010 5
2011 10
2012 6
2013 11
2014 4
2015 6
2016 10
2017 15
2018 11
2019 16
2020 17
2021 11
2022 6
2023 10
2024 18
2025 16

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190 results

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Page 1
Phenylketonuria.
van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. van Spronsen FJ, et al. Among authors: bosch am. Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0. Nat Rev Dis Primers. 2021. PMID: 34017006 Free PMC article. Review.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: bosch am. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
Mitochondrial complex I activity in microglia sustains neuroinflammation.
Peruzzotti-Jametti L, Willis CM, Krzak G, Hamel R, Pirvan L, Ionescu RB, Reisz JA, Prag HA, Garcia-Segura ME, Wu V, Xiang Y, Barlas B, Casey AM, van den Bosch AMR, Nicaise AM, Roth L, Bates GR, Huang H, Prasad P, Vincent AE, Frezza C, Viscomi C, Balmus G, Takats Z, Marioni JC, D'Alessandro A, Murphy MP, Mohorianu I, Pluchino S. Peruzzotti-Jametti L, et al. Among authors: van den bosch amr. Nature. 2024 Apr;628(8006):195-203. doi: 10.1038/s41586-024-07167-9. Epub 2024 Mar 13. Nature. 2024. PMID: 38480879 Free PMC article.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: bosch am. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article.
European guidelines on diagnosis and treatment of phenylketonuria: First revision.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: bosch am. Mol Genet Metab. 2025 Jun;145(2):109125. doi: 10.1016/j.ymgme.2025.109125. Epub 2025 Apr 30. Mol Genet Metab. 2025. PMID: 40378670 Free article. Review.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Among authors: bosch am. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Classical galactosaemia revisited.
Bosch AM. Bosch AM. J Inherit Metab Dis. 2006 Aug;29(4):516-25. doi: 10.1007/s10545-006-0382-0. Epub 2006 Jul 11. J Inherit Metab Dis. 2006. PMID: 16838075 Review.
Broad rim lesions are a new pathological and imaging biomarker for rapid disease progression in multiple sclerosis.
Klotz L, Smolders J, Lehto J, Matilainen M, Lütje L, Buchholz L, Albrecht S, Walter C, Varghese J, Wiendl H, Nylund M, Thomas C, Gardberg M, van den Bosch AMR, Airas L, Huitinga I, Kuhlmann T. Klotz L, et al. Among authors: van den bosch amr. Nat Med. 2025 Jun;31(6):2016-2026. doi: 10.1038/s41591-025-03625-7. Epub 2025 Apr 29. Nat Med. 2025. PMID: 40301560 Free PMC article.
190 results