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Vitamin B12 deficiency in a 9-month-old boy.
Quentin C, Huybrechts S, Rozen L, De Laet C, Demulder A, Ferster A. Quentin C, et al. Among authors: de laet c. Eur J Pediatr. 2012 Jan;171(1):193-5. doi: 10.1007/s00431-011-1577-4. Epub 2011 Sep 21. Eur J Pediatr. 2012. PMID: 21947220
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR. Fettelschoss V, et al. Among authors: de laet c. J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1. J Biol Chem. 2017. PMID: 28572511 Free PMC article.
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
Muntau AC, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Munafo A, Mould DR, Moreau-Stucker F, Rogoff D. Muntau AC, et al. Among authors: de laet c. Orphanet J Rare Dis. 2017 Mar 9;12(1):47. doi: 10.1186/s13023-017-0600-x. Orphanet J Rare Dis. 2017. PMID: 28274234 Free PMC article. Clinical Trial.
Recommendations for the management of tyrosinaemia type 1.
de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkötter U. de Laet C, et al. Among authors: de baulny ho. Orphanet J Rare Dis. 2013 Jan 11;8:8. doi: 10.1186/1750-1172-8-8. Orphanet J Rare Dis. 2013. PMID: 23311542 Free PMC article. Review.
151 results