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89 results

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.

Lee NC, Chang KL, In 't Groen SLM, de Faria DOS, Huang HJ, Pijnappel WWMP, Hwu WL, Chien YH

The Journal of pediatrics, 2022 May

doi: S0022-3476(21)01279-8

Mucolipidosis type II and type III: a systematic review of 843 published cases.

Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E

Genetics in medicine : official journal of the American College of Medical Genetics, 2021 11

doi: 10.1038/s41436-021-01244-4

An assay to quantify satellite cell activation using isolated mouse myofibers.

Canibano-Fraile R, Boertjes E, Bozhilova S, Pijnappel WWMP, Schaaf GJ

STAR protocols, 2021 Jun 18

doi: 10.1016/j.xpro.2021.100482

Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.

Schaefers J, van der Giessen LJ, Klees C, Jacobs EH, Sieverdink S, Dremmen MHG, Spoor JKH, van der Ploeg AT, van den Hout JMP, Huidekoper HH

Orphanet journal of rare diseases, 2021 05 14

doi: 10.1186/s13023-021-01858-6

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.

Mazurkiewicz-Bełdzińska M, Del Toro M, Haliloğlu G, Huidekoper HH, Kravljanac R, Mühlhausen C, Andersen BN, Prpić I, Striano P, Auvin S

Expert review of neurotherapeutics, 2021 Nov

doi: 10.1080/14737175.2021.1885374

Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?

Vollebregt AAM, Ebbink BJ, Rizopoulos D, Lequin MH, Aarsen FK, Shapiro EG, van der Ploeg AT, van den Hout JMP

Journal of inherited metabolic disease, 2021 05

doi: 10.1002/jimd.12342

A Generic Assay to Detect Aberrant Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.

Broeders M, Smits K, Goynuk B, Oussoren E, van den Hout HJMP, Bergsma AJ, van der Ploeg AT, Pijnappel WWMP

Molecular therapy. Methods & clinical development, 2020 Dec 11

doi: 10.1016/j.omtm.2020.09.004

Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives.

Oussoren E, Wagenmakers MAEM, Link B, van der Meijden JC, Pijnappel WWMP, Ruijter GJG, Langeveld M, van der Ploeg AT

Bone, 2021 02

doi: 10.1016/j.bone.2020.115729

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease.

Ernst MPT, Broeders M, Herrero-Hernandez P, Oussoren E, van der Ploeg AT, Pijnappel WWMP

Molecular therapy. Methods & clinical development, 2020 Sep 11

doi: 10.1016/j.omtm.2020.06.022

Opportunities and challenges for antisense oligonucleotide therapies.

Kuijper EC, Bergsma AJ, Pijnappel WWMP, Aartsma-Rus A

Journal of inherited metabolic disease, 2021 01

doi: 10.1002/jimd.12251

Hip Morphology in Mucolipidosis Type II.

Ammer LS, Oussoren E, Muschol NM, Pohl S, Rubio-Gozalbo ME, Santer R, Stuecker R, Vettorazzi E, Breyer SR

Journal of clinical medicine, 2020 Mar 08

doi: 10.3390/jcm9030728

Sharpening the Molecular Scissors: Advances in Gene-Editing Technology.

Broeders M, Herrero-Hernandez P, Ernst MPT, van der Ploeg AT, Pijnappel WWMP

iScience, 2020 Jan 24

doi: 10.1016/j.isci.2019.100789