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Items: 1 to 50 of 184

1.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.

Eur J Paediatr Neurol. 2019 Aug 10. pii: S1090-3798(19)30027-3. doi: 10.1016/j.ejpn.2019.08.004. [Epub ahead of print]

PMID:
31481303
2.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA.

Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.

PMID:
31422819
3.

The Ketogenic Diet and Its Effect on Bone Mineral Density: A Retrospective Observational Cohort Study.

Draaisma JMT, Hampsink BM, Janssen M, van Houdt NBM, Linders ETAM, Willemsen MA.

Neuropediatrics. 2019 Aug 9. doi: 10.1055/s-0039-1693059. [Epub ahead of print]

PMID:
31398763
4.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy.

van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ.

Clin Chem. 2019 Aug 2. pii: clinchem.2019.305391. doi: 10.1373/clinchem.2019.305391. [Epub ahead of print]

PMID:
31375477
5.

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.

Staps P, Cruysberg JRM, Roeleveld N, Willemsen MAAP, Theelen T.

Ophthalmol Retina. 2019 Jun;3(6):500-509. doi: 10.1016/j.oret.2019.01.023. Epub 2019 Feb 7.

PMID:
31174672
6.

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH, de Bot ST, van de Pol LA, Wolf NI, Brilstra EH, Frints SG, van Gaalen J, Misra-Isrie M, Pennings M, Verschuuren-Bemelmans CC, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

Brain. 2019 Jul 1;142(7):e31. doi: 10.1093/brain/awz140. No abstract available.

PMID:
31157359
7.

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

van Tol W, Michelakakis H, Georgiadou E, van den Bergh P, Moraitou M, Papadimas GK, Papadopoulos C, Huijben K, Alsady M, Willemsen MA, Lefeber DJ.

J Inherit Metab Dis. 2019 Sep;42(5):984-992. doi: 10.1002/jimd.12095. Epub 2019 Apr 23.

PMID:
30931530
8.

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

Bekker YAC, Lambrechts DA, Verhoeven JS, van Boxtel J, Troost C, Kamsteeg EJ, Willemsen MA, Braakman HMH.

Eur J Paediatr Neurol. 2019 May;23(3):404-409. doi: 10.1016/j.ejpn.2019.02.012. Epub 2019 Feb 27.

PMID:
30885501
9.

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP.

J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28.

PMID:
30819809
10.

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

van Egmond ME, Contarino MF, Lugtenberg CHA, Peall KJ, Brouwer OF, Fung VSC, Roze E, Stewart RE, Willemsen MA, Wolf NI, de Koning TJ, Tijssen MA.

Mov Disord. 2019 Mar;34(3):317-320. doi: 10.1002/mds.27627. Epub 2019 Feb 6. No abstract available.

PMID:
30726575
11.

Extracapsular extension in the positive sentinel lymph node: a marker of poor prognosis in cT1-2N0 breast cancer patients?

Vane MLG, Willemsen MA, van Roozendaal LM, van Kuijk SMJ, Kooreman LFS, Siesling S, de Wilt HHW, Smidt ML.

Breast Cancer Res Treat. 2019 Apr;174(3):711-718. doi: 10.1007/s10549-018-05074-y. Epub 2019 Jan 4.

PMID:
30610488
12.

Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.

Staps P, de Groot IJM, van Gerven MHJC, Willemsen MAAP.

Neuropediatrics. 2019 Apr;50(2):89-95. doi: 10.1055/s-0038-1676854. Epub 2019 Jan 4.

PMID:
30609437
13.

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE.

Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394.

14.

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC.

Neurology. 2019 Jan 1;92(1):e19-e29. doi: 10.1212/WNL.0000000000006700. Epub 2018 Nov 30.

PMID:
30504431
15.

Failing Transmission.

Willemsen MA.

Neuropediatrics. 2019 Feb;50(1):1. doi: 10.1055/s-0038-1675559. Epub 2018 Oct 29.

PMID:
30372765
16.

Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.

Maas RPPWM, Kamsteeg EJ, Mangano S, Vázquez López ME, Nicolai J, Silver K, Fernández-Alvarez E, Willemsen MAAP.

Eur J Paediatr Neurol. 2018 Nov;22(6):1110-1117. doi: 10.1016/j.ejpn.2018.07.012. Epub 2018 Aug 15. Review.

PMID:
30194039
17.

A brother and sister with intellectual disability and characteristic neuroimaging findings.

Hermens M, van der Knaap MS, Kamsteeg EJ, Willemsen MA.

Eur J Paediatr Neurol. 2018 Sep;22(5):866-869. doi: 10.1016/j.ejpn.2018.06.005. Epub 2018 Jun 25.

PMID:
29970281
18.

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.

de Mol CL, Wong YYM, van Pelt ED, Ketelslegers IA, Bakker DP, Boon M, Braun KPJ, van Dijk KGJ, Eikelenboom MJ, Engelen M, Geleijns K, Haaxma CA, Niermeijer JMF, Niks EH, Peeters EAJ, Peeters-Scholte CMPCD, Poll-The BT, Portier RP, de Rijk-van Andel JF, Samijn JPA, Schippers HM, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Visscher F, Vles JSH, Willemsen MAAP, Catsman-Berrevoets CE, Hintzen RQ, Neuteboom RF.

J Neurol. 2018 Jun;265(6):1310-1319. doi: 10.1007/s00415-018-8835-6. Epub 2018 Mar 22.

19.

Dystonia in childhood: Rising networks.

Willemsen MA.

Eur J Paediatr Neurol. 2018 Mar;22(2):219-220. doi: 10.1016/j.ejpn.2018.01.020. No abstract available.

PMID:
29447766
20.

Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.

Schoenaker MHD, Van Os NJH, Van der Flier M, Van Deuren M, Seyger MM, Taylor AMR, Weemaes CMR, Willemsen MAAP.

Eur J Med Genet. 2018 May;61(5):284-287. doi: 10.1016/j.ejmg.2017.12.012. Epub 2017 Dec 26.

PMID:
29288088
21.

Author response: l-Dopa in dystonia: A modern perspective.

Maas RPPWM, van de Warrenburg BPC, Willemsen MAAP.

Neurology. 2018 Jan 2;90(1):47. doi: 10.1212/WNL.0000000000004783. No abstract available.

PMID:
29284656
22.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Maroofian R, Riemersma M, Jae LT, Zhianabed N, Willemsen MH, Wissink-Lindhout WM, Willemsen MA, de Brouwer APM, Mehrjardi MYV, Ashrafi MR, Kusters B, Kleefstra T, Jamshidi Y, Nasseri M, Pfundt R, Brummelkamp TR, Abbaszadegan MR, Lefeber DJ, van Bokhoven H.

Genome Med. 2017 Dec 22;9(1):118. doi: 10.1186/s13073-017-0505-2.

23.

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome.

Braakman HMH, Engelen M, Nicolai J, Willemsen MAAP.

J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):668-670. doi: 10.1136/jnnp-2017-316861. Epub 2017 Sep 26. No abstract available.

PMID:
28951496
24.

Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

Staps P, Hogeveen M, Fuijkschot J, van Drongelen J, Willemsen MAAP.

J Perinat Med. 2018 Jul 26;46(5):523-529. doi: 10.1515/jpm-2017-0187.

PMID:
28915122
25.

Telangiectasias: Small lesions referring to serious disorders.

Schieving JH, Schoenaker MHD, Weemaes CM, van Deuren M, van der Flier M, Seyger MM, Willemsen MAAP.

Eur J Paediatr Neurol. 2017 Nov;21(6):807-815. doi: 10.1016/j.ejpn.2017.07.016. Epub 2017 Jul 29. Review.

PMID:
28803159
26.

Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation.

Willemsen MA.

Neuropediatrics. 2017 Oct;48(5):327-328. doi: 10.1055/s-0037-1603519. Epub 2017 Jun 5. No abstract available.

PMID:
28582793
27.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572
28.

l-Dopa in dystonia: A modern perspective.

Maas RPPWM, Wassenberg T, Lin JP, van de Warrenburg BPC, Willemsen MAAP.

Neurology. 2017 May 9;88(19):1865-1871. doi: 10.1212/WNL.0000000000003897. Epub 2017 Apr 7. Review.

PMID:
28389587
29.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ.

Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5.

30.

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Vissers LELM, van Nimwegen KJM, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, Pfundt R, van der Wilt GJ, Krabbenborg L, Brunner HG, van der Burg S, Grutters J, Veltman JA, Willemsen MAAP.

Genet Med. 2017 Sep;19(9):1055-1063. doi: 10.1038/gim.2017.1. Epub 2017 Mar 23.

31.

Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group.

Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Review.

32.

A post hoc study on gene panel analysis for the diagnosis of dystonia.

van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ.

Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10.

PMID:
28186668
33.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2017 Feb;25(3):393. doi: 10.1038/ejhg.2016.168. No abstract available.

34.

Ataxia-telangiectasia: Immunodeficiency and survival.

van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP.

Clin Immunol. 2017 May;178:45-55. doi: 10.1016/j.clim.2017.01.009. Epub 2017 Jan 24.

35.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Erratum in: Nat Genet. 2017 May 26;49(6):969.

PMID:
27992417
36.

Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis.

van Engen-van Grunsven AC, Rabold K, Küsters-Vandevelde HV, Rijntjes J, Djafarihamedani M, Hehir-Kwa JY, Küsters B, Willemsen MA, van der Burgt I, Wesseling P, Blokx WA, Groenen PJ.

Acta Neuropathol. 2017 Feb;133(2):333-335. doi: 10.1007/s00401-016-1654-x. Epub 2016 Dec 17. No abstract available.

PMID:
27988846
37.

Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome.

Theelen T, Cruysberg JR, Willemsen MA.

Acta Ophthalmol. 2016 Nov;94(7):e663-e664. doi: 10.1111/aos.13042. Epub 2016 Apr 7. No abstract available.

38.

Neurometabolic disorders: Five new things.

Willemsen MA, Harting I, Wevers RA.

Neurol Clin Pract. 2016 Aug;6(4):348-357. doi: 10.1212/CPJ.0000000000000266. Review.

39.

Parental quality of life in complex paediatric neurologic disorders of unknown aetiology.

van Nimwegen KJ, Kievit W, van der Wilt GJ, Schieving JH, Willemsen MA, Donders AR, Verhaak CM, Grutters JP.

Eur J Paediatr Neurol. 2016 Sep;20(5):723-31. doi: 10.1016/j.ejpn.2016.05.007. Epub 2016 May 25.

PMID:
27321953
40.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT.

Orphanet J Rare Dis. 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y.

41.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2016 Oct;24(10):1460-6. doi: 10.1038/ejhg.2016.42. Epub 2016 May 11. Erratum in: Eur J Hum Genet. 2017 Feb;25(3):393-0.

42.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.

Krabbenborg L, Vissers LE, Schieving J, Kleefstra T, Kamsteeg EJ, Veltman JA, Willemsen MA, Van der Burg S.

J Genet Couns. 2016 Dec;25(6):1207-1214. Epub 2016 Apr 20.

43.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Tonduti D, Orcesi S, Jenkinson EM, Dorboz I, Renaldo F, Panteghini C, Rice GI, Henneke M, Livingston JH, Elmaleh M, Burglen L, Willemsen MA, Chiapparini L, Garavaglia B, Rodriguez D, Boespflug-Tanguy O, Moroni I, Crow YJ.

Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016.03.009. Epub 2016 Apr 7.

PMID:
27091087
44.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP.

Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015.

45.

Hourly analysis of cerebrospinal fluid glucose shows large diurnal fluctuations.

Verbeek MM, Leen WG, Willemsen MA, Slats D, Claassen JA.

J Cereb Blood Flow Metab. 2016 May;36(5):899-902. doi: 10.1177/0271678X16637612. Epub 2016 Mar 4.

46.

Serum inflammatory mediators correlate with disease activity in electrical status epilepticus in sleep (ESES) syndrome.

van den Munckhof B, de Vries EE, Braun KP, Boss HM, Willemsen MA, van Royen-Kerkhof A, de Jager W, Jansen FE.

Epilepsia. 2016 Feb;57(2):e45-50. doi: 10.1111/epi.13274. Epub 2015 Dec 14.

47.

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA.

Clin Genet. 2016 Aug;90(2):105-17. doi: 10.1111/cge.12710. Epub 2016 Jan 20. Review.

PMID:
26662178
48.

Lactate and its many faces.

Taher M, Leen WG, Wevers RA, Willemsen MA.

Eur J Paediatr Neurol. 2016 Jan;20(1):3-10. doi: 10.1016/j.ejpn.2015.09.008. Epub 2015 Oct 9. Review.

PMID:
26481417
49.

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment.

van Egmond ME, Elting JW, Kuiper A, Zutt R, Heineman KR, Brouwer OF, Sival DA, Willemsen MA, Tijssen MA, de Koning TJ.

Eur J Paediatr Neurol. 2015 Nov;19(6):726-9. doi: 10.1016/j.ejpn.2015.07.003. Epub 2015 Jul 21.

PMID:
26232052
50.

Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial.

Fuijkschot J, Seyger MM, Bastiaans DE, Wevers RA, Roeleveld N, Willemsen MA.

Acta Derm Venereol. 2016 Feb;96(2):255-6. doi: 10.2340/00015555-2195. No abstract available.

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