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Items: 1 to 20 of 30

1.

Isolated sulfite oxidase deficiency.

Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P.

J Inherit Metab Dis. 2017 Oct 4. doi: 10.1007/s10545-017-0089-4. [Epub ahead of print]

PMID:
28980090
2.

PREPL deficiency: delineation of the phenotype and development of a functional blood assay.

Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM.

Genet Med. 2017 Jul 20. doi: 10.1038/gim.2017.74. [Epub ahead of print]

PMID:
28726805
3.

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

Palmigiano A, Bua RO, Barone R, Rymen D, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Garozzo D, Jaeken J, Sturiale L.

J Mass Spectrom. 2017 Jun;52(6):372-377. doi: 10.1002/jms.3936.

PMID:
28444691
4.

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Witters P, Régal L, Waterham HR, De Meirleir L, Wanders RJ, Morava E.

Am J Med Genet A. 2016 Jun;170(6):1642-6. doi: 10.1002/ajmg.a.37628. Epub 2016 Mar 23. No abstract available.

PMID:
27007981
5.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

6.

[Newborn screening : the point of view of the paediatrician].

De Laet C, Laeremans H, Ferster A, Gulbis B, Mansbach AL, Jonniaux E, Regal L, Goyens P.

Rev Med Brux. 2015 Sep;36(4):212-8. Review. French.

PMID:
26591303
7.

Peroxisomal Disorders: A Review on Cerebellar Pathologies.

De Munter S, Verheijden S, Régal L, Baes M.

Brain Pathol. 2015 Nov;25(6):663-78. doi: 10.1111/bpa.12290. Epub 2015 Aug 19. Review.

PMID:
26201894
8.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

9.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H.

Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26.

10.

ALG11-CDG: Three novel mutations and further characterization of the phenotype.

Regal L, van Hasselt PM, Foulquier F, Cuppen I, Prinsen H, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J.

Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar.

11.

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG.

Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.

12.

Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons.

Morawski M, Nuytens K, Juhasz T, Zeitschel U, Seeger G, Waelkens E, Regal L, Schulz I, Arendt T, Szeltner Z, Creemers J, Rossner S.

Neuroscience. 2013 Jul 9;242:128-39. doi: 10.1016/j.neuroscience.2013.02.038. Epub 2013 Feb 26.

PMID:
23485813
13.

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.

Schaballie H, Renard M, Vermylen C, Scheers I, Revencu N, Regal L, Cassiman D, Sevenants L, Hoffman I, Corveleyn A, Bordon V, Haerynck F, Allegaert K, De Boeck K, Roskams T, Boeckx N, Bossuyt X, Meyts I.

Eur J Pediatr. 2013 May;172(5):613-22. doi: 10.1007/s00431-012-1908-0. Epub 2013 Jan 12.

PMID:
23315050
14.

COG5-CDG: expanding the clinical spectrum.

Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J.

Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Erratum in: Orphanet J Rare Dis. 2013;8:120.

15.

NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.

Louwette S, Régal L, Wittevrongel C, Thys C, Vandeweeghde G, Decuyper E, Leemans P, De Vos R, Van Geet C, Jaeken J, Freson K.

Hum Mol Genet. 2013 Jan 1;22(1):61-73. doi: 10.1093/hmg/dds401. Epub 2012 Sep 24.

PMID:
23010472
16.

Two novel deletions in hypotonia-cystinuria syndrome.

Régal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C, Van Bruwaene L, Then SH, Jaeken J, Creemers J.

Mol Genet Metab. 2012 Nov;107(3):614-6. doi: 10.1016/j.ymgme.2012.06.011. Epub 2012 Jun 26.

PMID:
22796000
17.

Risk factors for elevated levels of 17-hydroxyprogesterone during neonatal intensive care unit admission.

Pauwels G, Allegaert K, Régal L, Meulemans A.

Acta Clin Belg. 2012 Mar-Apr;67(2):88-93.

PMID:
22712163
18.

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

Steenweg ME, Vanderver A, Ceulemans B, Prabhakar P, Régal L, Fattal-Valevski A, Richer L, Simonetti BG, Barkhof F, Rodenburg RJ, Pouwels PJ, van der Knaap MS.

Arch Neurol. 2012 Jun;69(6):718-22. doi: 10.1001/archneurol.2011.1048.

19.

Evaluation of the pediatric patient with hypotonia: don't forget the hypotonia-cystinuria syndrome!

Jaeken J, Creemers J, Régal L.

Dev Med Child Neurol. 2012 Mar;54(3):288. doi: 10.1111/j.1469-8749.2011.04195.x. Epub 2011 Dec 29. No abstract available.

20.

Necessity of fractionated urine collection for monitoring patients with cystinuria.

van Hoeve K, Vermeersch P, Regal L, Levtchenko E.

Clin Chem. 2011 May;57(5):780-1. doi: 10.1373/clinchem.2010.161547. Epub 2011 Mar 15. No abstract available.

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