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123 results

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.

Kuil LE, López Martí A, Carreras Mascaro A, van den Bosch JC, van den Berg P, van der Linde HC, Schoonderwoerd K, Ruijter GJG, van Ham TJ

Glia, 2019 Sep

doi: 10.1002/glia.23641

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

Demirdas S, van Slegtenhorst MA, Verdijk RM, Lee M, van den Hout HMP, Wessels MW, Frohn-Mulder IME, Gardeitchik T, van der Ploeg AT, Schaaf GJ

Circulation. Genomic and precision medicine, 2019 03

doi: 10.1161/CIRCGEN.118.002395

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S

Human mutation, 2019 07

doi: 10.1002/humu.23748

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ

European journal of human genetics : EJHG, 2019 Jun

doi: 10.1038/s41431-019-0348-y

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.

Oussoren E, Mathijssen IMJ, Wagenmakers M, Verdijk RM, Bredero-Boelhouwer HH, van Veelen-Vincent MC, van der Meijden JC, van den Hout JMP, Ruijter GJG, van der Ploeg AT, Langeveld M

Journal of inherited metabolic disease, 2018 11

doi: 10.1007/s10545-018-0212-1

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Deden AC, van Slegtenhorst MA, Ruijter GJG, Schoonderwoerd GC, Huidekoper HH, Oussoren E, Brooks AS, Demirdas S

Clinica chimica acta; international journal of clinical chemistry, 2018 09

doi: 10.1016/j.cca.2018.06.003

Mucolipidosis type III, a series of adult patients.

Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M

Journal of inherited metabolic disease, 2018 09

doi: 10.1007/s10545-018-0186-z

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options.

Bergsma AJ, van der Wal E, Broeders M, van der Ploeg AT, Pim Pijnappel WWM

International review of cell and molecular biology, 2018

doi: 10.1016/bs.ircmb.2017.07.008

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

Oussoren E, Bessems JHJM, Pollet V, van der Meijden JC, van der Giessen LJ, Plug I, Devos AS, Ruijter GJG, van der Ploeg AT, Langeveld M

Molecular genetics and metabolism, 2017 07

doi: 10.1016/j.ymgme.2017.05.008

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP

Developmental medicine and child neurology, 2017 10

doi: 10.1111/dmcn.13467

Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases.

Johnston BC, Miller PA, Agarwal A, Mulla S, Khokhar R, De Oliveira K, Hitchcock CL, Sadeghirad B, Mohiuddin M, Sekercioglu N, Seweryn M, Koperny M, Bala MM, Adams-Webber T, Granados A, Hamed A, Crawford MW, van der Ploeg AT, Guyatt GH

Journal of clinical epidemiology, 2016 11

doi: 10.1016/j.jclinepi.2016.06.010

Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.

Rutten M, Ciet P, van den Biggelaar R, Oussoren E, Langendonk JG, van der Ploeg AT, Langeveld M

Orphanet journal of rare diseases, 2016 Apr 26

doi: 10.1186/s13023-016-0425-z