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Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Front Hum Neurosci. 2013 Dec 24;7:858. doi: 10.3389/fnhum.2013.00858. eCollection 2013.
Front Hum Neurosci. 2013.
PMID: 24399946
Free PMC article.
Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome.
van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, van Wijk JA.
van der Knaap MS, et al. Among authors: wevers ra.
J Inherit Metab Dis. 1996;19(6):787-91. doi: 10.1007/BF01799174.
J Inherit Metab Dis. 1996.
PMID: 8982953
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Leukoencephalopathy associated with a disturbance in the metabolism of polyols.
van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C.
van der Knaap MS, et al. Among authors: wevers ra.
Ann Neurol. 1999 Dec;46(6):925-8. doi: 10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j.
Ann Neurol. 1999.
PMID: 10589548
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Clinical significance of low cobalamin levels in older hospital patients.
van Asselt DZ, Blom HJ, Zuiderent R, Wevers RA, Jakobs C, van den Broek WJ, Lamers CB, Corstens FH, Hoefnagels WH.
van Asselt DZ, et al. Among authors: wevers ra.
Neth J Med. 2000 Aug;57(2):41-9. doi: 10.1016/s0300-2977(00)00048-6.
Neth J Med. 2000.
PMID: 10924940
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In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.
Moolenaar SH, van der Knaap MS, Engelke UF, Pouwels PJ, Janssen-Zijlstra FS, Verhoeven NM, Jakobs C, Wevers RA.
Moolenaar SH, et al. Among authors: wevers ra.
NMR Biomed. 2001 May;14(3):167-76. doi: 10.1002/nbm.690.
NMR Biomed. 2001.
PMID: 11357181
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Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete.
Evangeliou A, Lionis C, Michailidou H, Spilioti M, Kanitsakis A, Nikitakis P, Drakonakis N, Giannakopoulou C, Sbyrakis S, Sewell AC, Boehles HJ, Smeitink J, Wevers RA.
Evangeliou A, et al. Among authors: wevers ra.
J Inherit Metab Dis. 2001 Dec;24(8):877-80. doi: 10.1023/a:1013904627537.
J Inherit Metab Dis. 2001.
PMID: 11916324
No abstract available.
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Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.
Wolf NI, Haas D, Hoffmann GF, Jakobs C, Salomons GS, Wevers RA, Engelke UF, Rating D.
Wolf NI, et al. Among authors: wevers ra.
J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e.
J Inherit Metab Dis. 2004.
PMID: 15243989
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Cardiac manifestations of inborn errors of metabolism.
Evangeliou A, Papadopoulou-Legbelou K, Daphnis E, Ganotakis E, Vavouranakis I, Michailidou H, Hitoglou-Makedou A, Nicolaidou P, Wevers R, Varlamis G.
Evangeliou A, et al.
Minerva Pediatr. 2007 Jun;59(3):215-8.
Minerva Pediatr. 2007.
PMID: 17519866
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Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA.
Wamelink MM, et al. Among authors: wevers ra.
Hum Mutat. 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685.
Hum Mutat. 2008.
PMID: 18186520
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Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA.
Lefeber DJ, et al. Among authors: wevers ra.
Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2.
Am J Hum Genet. 2009.
PMID: 19576565
Free PMC article.
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