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151 resultaten

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P, , van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM

Journal of inherited metabolic disease, 2025 Jan

doi: 10.1002/jimd.12842

Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.

Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM,

Journal of inherited metabolic disease, 2024 Dec 03

doi: 10.1002/jimd.12815

Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.

Díaz-Manera J, Hughes D, Erdem-Özdamar S, Tard C, Béhin A, Bouhour F, Davison J, Hahn SH, Haack KA, Huynh-Ba O, Periquet M, Tammireddy S, Thibault N, Zhou T, van der Ploeg AT

Molecular genetics and metabolism, 2024 Nov 08

doi: S1096-7192(24)00492-X

Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.

Byrne BJ, Parenti G, Schoser B, van der Ploeg AT, Do H, Fox B, Goldman M, Johnson FK, Kang J, Mehta N, Mondick J, Sheikh MO, Sitaraman Das S, Tuske S, Brudvig J, Weimer JM, Mozaffar T

Frontiers in neurology, 2024

doi: 10.3389/fneur.2024.1451512

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT,

Orphanet journal of rare diseases, 2024 Nov 01

doi: 10.1186/s13023-024-03373-w

The impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria.

Kluijver LG, Wagenmakers MAEM, Wilson JHP, Langendonk JG

The Journal of clinical endocrinology and metabolism, 2024 Oct 14

doi: 10.1210/clinem/dgae729

Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease.

Najac C, van der Beek NAME, Boer VO, van Doorn PA, van der Ploeg AT, Ronen I, Kan HE, van den Hout JMP

Brain communications, 2024

doi: 10.1093/braincomms/fcae303

Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.

van Kooten HA, Horton MC, Wenninger S, Babačić H, Schoser B, Lefeuvre C, Taouagh N, Laforêt P, Segovia S, Díaz-Manera J, Claeys KG, Mongini T, Musumeci O, Toscano A, Hundsberger T, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME,

European journal of neurology, 2024 Aug 28

doi: 10.1111/ene.16397

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM, , Timmer C, Wagenmakers MAEM, Wanders RJA, van Karnebeek CD, Cellini B, Houtkooper RH, Ferdinandusse S

Molecular genetics and metabolism, 2024 Jul 19

doi: S1096-7192(24)00426-8

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management.

Minder AE, Kluijver LG, Barman-Aksözen J, Minder EI, Langendonk JG

Liver international : official journal of the International Association for the Study of the Liver, 2024 Jul 16

doi: 10.1111/liv.16027

Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia.

Schreuder AB, Overduin RJ, Peltenburg NC, de Boer L, Bodewes FAJA, Derks TGJ

JIMD reports, 2024 Jul

doi: 10.1002/jmd2.12414

Quality of life in children with erythropoietic protoporphyria: a case-control study.

Kluijver LG, Wensink D, Wagenmakers MAEM, Huidekoper HH, Witters P, Rymen D, Langendonk JG

The Journal of dermatology, 2024 Jun 26

doi: 10.1111/1346-8138.17348