Boemer F - Search Results

1

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: boemer f. 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

2

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.

3

Newborn screening for sickle cell disease in Kisangani, Democratic Republic of the Congo: an update.

Kasai ET, Gulbis B, Ntukamunda JK, Bours V, Batina Agasa S, Marini Djang'eing'a R, Boemer F, Katenga Bosunga G, Ngbonda Dauly N, Sokoni Vutseme J, Boso Mokili B, Alworong'a Opara JP. Kasai ET, et al. Among authors: boemer f. Hematology. 2023 Dec;28(1):2213043. doi: 10.1080/16078454.2023.2213043. Hematology. 2023. PMID: 37183964 Free article.

4

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.

5

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.

Dangouloff T, Hovhannesyan K, Mashhadizadeh D, Minner F, Mni M, Helou L, Piazzon F, Palmeira L, Boemer F, Servais L. Dangouloff T, et al. Among authors: boemer f. Children (Basel). 2024 Jul 30;11(8):926. doi: 10.3390/children11080926. Children (Basel). 2024. PMID: 39201861 Free PMC article.

6

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

7

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

8

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

9

[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.

10

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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