Bosch AM - Search Results

1

Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency.

van Kuilenburg AB, Stroomer AE, Bosch AM, Duran M. van Kuilenburg AB, et al. Among authors: bosch am. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):825-9. doi: 10.1080/15257770802146445. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600547

2

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM. van Kuilenburg AB, et al. Among authors: bosch am. Mol Genet Metab. 2007 Jun;91(2):157-64. doi: 10.1016/j.ymgme.2007.02.008. Epub 2007 Mar 26. Mol Genet Metab. 2007. PMID: 17383919

3

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

ten Hoedt AE, van Kempen AA, Boelen A, Duran M, Kemper-Proper EA, Oey-Spauwen MJ, Wijburg FA, Bosch AM. ten Hoedt AE, et al. Among authors: bosch am. J Inherit Metab Dis. 2007 Nov;30(6):978. doi: 10.1007/s10545-007-0701-0. Epub 2007 Sep 16. J Inherit Metab Dis. 2007. PMID: 17876719

4

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.

Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Bosch AM, et al. J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26. J Inherit Metab Dis. 2011. PMID: 21110228 Free PMC article.

5

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

de Roo MGA, Abeling NGGM, Majoie CB, Bosch AM, Koelman JHTM, Cobben JM, Duran M, Poll-The BT. de Roo MGA, et al. Among authors: bosch am. Mol Genet Metab. 2014 Mar;111(3):404-407. doi: 10.1016/j.ymgme.2013.09.014. Epub 2013 Sep 26. Mol Genet Metab. 2014. PMID: 24100244

6

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM. Hermans ME, et al. Among authors: bosch am. J Inherit Metab Dis. 2022 Nov;45(6):1094-1105. doi: 10.1002/jimd.12548. Epub 2022 Aug 25. J Inherit Metab Dis. 2022. PMID: 36053831

7

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome.

Bosch AM, Sillevis Smitt JH, Van Gennip AH, Abeling NG, Schutgens RB, Bakker HD, Wijburg FA. Bosch AM, et al. Br J Dermatol. 1998 Sep;139(3):488-91. doi: 10.1046/j.1365-2133.1998.02415.x. Br J Dermatol. 1998. PMID: 9767296

8

Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.

Draijer LG, Bosch AM, Wiegman A, Sjouke B, Benninga MA, Koot BGP. Draijer LG, et al. Among authors: bosch am. Atherosclerosis. 2018 Nov;278:174-179. doi: 10.1016/j.atherosclerosis.2018.09.023. Epub 2018 Sep 19. Atherosclerosis. 2018. PMID: 30286343

9

Clinical features of galactokinase deficiency: a review of the literature.

Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA. Bosch AM, et al. J Inherit Metab Dis. 2002 Dec;25(8):629-34. doi: 10.1023/a:1022875629436. J Inherit Metab Dis. 2002. PMID: 12705493 Review.

10

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.

Boot E, Hollak CEM, Huijbregts SCJ, Jahja R, van Vliet D, Nederveen AJ, Nieman DH, Bosch AM, Bour LJ, Bakermans AJ, Abeling NGGM, Bassett AS, van Amelsvoort TAMJ, van Spronsen FJ, Booij J. Boot E, et al. Among authors: bosch am. Psychol Med. 2017 Dec;47(16):2854-2865. doi: 10.1017/S0033291717001398. Psychol Med. 2017. PMID: 28552082

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