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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1.
J Inherit Metab Dis. 2021.
PMID: 33200442
Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry.
Meiouet F, El Kabbaj S, Abilkassem R, Boemer F.
Meiouet F, et al. Among authors: boemer f.
Pediatr Rep. 2023 Mar 10;15(1):227-236. doi: 10.3390/pediatric15010018.
Pediatr Rep. 2023.
PMID: 36976725
Free PMC article.
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ; Study Group on Missed PKU and Missed to Follow-Up.
van Wegberg AMJ, et al.
J Pediatr. 2021 Dec;239:231-234.e2. doi: 10.1016/j.jpeds.2021.08.070. Epub 2021 Aug 30.
J Pediatr. 2021.
PMID: 34474089
Free article.
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
Debray FG, Stümpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R.
Debray FG, et al. Among authors: boemer f.
J Inherit Metab Dis. 2015 Nov;38(6):1147-53. doi: 10.1007/s10545-015-9857-1. Epub 2015 May 14.
J Inherit Metab Dis. 2015.
PMID: 25971455
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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A.
Tangeraas T, et al. Among authors: boemer f.
Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010.
Brain. 2023.
PMID: 36729635
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Surprising causes of C5-carnitine false positive results in newborn screening.
Boemer F, Schoos R, de Halleux V, Kalenga M, Debray FG.
Boemer F, et al.
Mol Genet Metab. 2014 Jan;111(1):52-4. doi: 10.1016/j.ymgme.2013.11.005. Epub 2013 Nov 19.
Mol Genet Metab. 2014.
PMID: 24291264
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[Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco].
Meiouet F, Kabbaj SE, Debray FG, Boemer F.
Meiouet F, et al. Among authors: boemer f.
Ann Biol Clin (Paris). 2021 Feb 1;79(1):49-55. doi: 10.1684/abc.2021.1619.
Ann Biol Clin (Paris). 2021.
PMID: 33570037
Free article.
French.
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Screening for sickle cell disease on dried blood: a new approach evaluated on 27,000 Belgian newborns.
Boemer F, Vanbellinghen JF, Bours V, Schoos R.
Boemer F, et al.
J Med Screen. 2006;13(3):132-6. doi: 10.1258/096914106778440644.
J Med Screen. 2006.
PMID: 17007654
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Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
Mutesa L, Muganga N, Lissens W, Boemer F, Schoos R, Pierquin G, Bours V.
Mutesa L, et al. Among authors: boemer f.
J Trop Pediatr. 2007 Dec;53(6):434-7. doi: 10.1093/tropej/fmm056. Epub 2007 Jul 5.
J Trop Pediatr. 2007.
PMID: 17616540
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Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test.
Mutesa L, Boemer F, Ngendahayo L, Rulisa S, Rusingiza EK, Cwinya-Ay N, Mazina D, Kariyo PC, Bours V, Schoos R.
Mutesa L, et al. Among authors: boemer f.
J Med Screen. 2007;14(3):113-6. doi: 10.1258/096914107782066211.
J Med Screen. 2007.
PMID: 17925082
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