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Results by year

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 8

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167 results

Results by year

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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.
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.
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. 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.
Galactosaemia - should it be screened in newborns?
Bosch AM. Bosch AM. Dev Period Med. 2018;22(3):221-224. doi: 10.34763/devperiodmed.20182203.221224. Dev Period Med. 2018. PMID: 30281516 Free PMC article. No abstract available.
Classic galactosemia: dietary dilemmas.
Bosch AM. Bosch AM. J Inherit Metab Dis. 2011 Apr;34(2):257-60. doi: 10.1007/s10545-010-9157-8. Epub 2010 Jul 13. J Inherit Metab Dis. 2011. PMID: 20625932 Free PMC article. No abstract available.
The galactosemia network (GalNet).
Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP; Steering Committee on behalf of all Galactosemia Network representatives. Rubio-Gozalbo ME, et al. Among authors: bosch am. J Inherit Metab Dis. 2017 Mar;40(2):169-170. doi: 10.1007/s10545-016-9989-y. Epub 2016 Nov 11. J Inherit Metab Dis. 2017. PMID: 27837294 No abstract available.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Scharre S, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10. Ann Clin Transl Neurol. 2022. PMID: 36217298 Free PMC article.
167 results