Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Meijer NWF, Huidekoper HH, Koop K, Fuchs SA, Heiner Fokkema MR, Lubout CMA, Haijer-Schreuder AB, Visser WF, Verschoof-Puite RK, Dekkers E, Bosch AM, Maase RE, de Sain-van der Velden MGM

International journal of neonatal screening, 2025 Dec 24

doi: 10.3390/ijns12010001

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Buijs MJN, Balfoort BM, Brands MM, Ten Asbroek ALMA, Boon CJF, Diederen RMH, Timmer C, Wagenmakers MAEM, Waterham HR, Wanders RJA, Houtkooper RH, van Karnebeek CD, Bergen AA

Acta ophthalmologica, 2025 Apr 07

doi: 10.1111/aos.17498

Sodium benzoate for the treatment of hepatic encephalopathy in humans and animals: a systematic review and meta-analysis.

van Zoest D, Gal B, Agha AH, den Hoed CM, Langendonk JG, Wagenmakers MAEM, Peltenburg C

European journal of gastroenterology & hepatology, 2024 Dec 19

doi: 10.1097/MEG.0000000000002911

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

Tchan M, Lehman A, van Dussen L, Langendonk JG, Janssen MCH, Langeveld M, Murphy E, Ryder B, Glamuzina E, Merkel M, Sechi A, Arnoux JB, Mochel F, Alkemade G, Maillot F, Kaphan E, Mazodier K, Thomas Q, Leguy-Seguin V, Marelli C

Journal of inherited metabolic disease, 2025 Mar

doi: 10.1002/jimd.70005

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

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

Homocysteine and methylmalonic acid in Phenylketonuria patients.

Hoss GRW, Sperb-Ludwig F, Tonon T, Poloni S, Behringer S, Blom HJ, Maillot F, Schwartz IVD

Genetics and molecular biology, 2024

doi: 10.1590/1678-4685-GMB-2023-0103

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

Stepien KM, Langendonk JG, Dao M, Gomes DC, Douillard C, Filipsson K, Glamuzina E, Haverkamp JA, Langeveld M, Lehman A, de Lonlay P, Lund AM, Oscarson M, Peltenburg NC, Ramadža DP, Ramachandran R, Reismann P, Shtylla A, Tchan M, Tan CY, Wilson C, Woodall A, Murphy E, Wagenmakers MAEM

Journal of inherited metabolic disease, 2023 Dec 09

doi: 10.1002/jimd.12695

Neurocognitive outcome and mental health in children with Tyrosinemia type 1 and Phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ

Journal of inherited metabolic disease, 2022 Jun 20

doi: 10.1002/jimd.12528

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ,

The Journal of pediatrics, 2021 Dec

doi: S0022-3476(21)00855-6

Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.

Coene KLM, Timmer C, Goorden SMI, Ten Hoedt AE, Kluijtmans LAJ, Janssen MCH, Rennings AJM, Prinsen HCMT, Wamelink MMC, Ruijter GJG, Körver-Keularts IMLW, Heiner-Fokkema MR, van Spronsen FJ, Hollak CE, Vaz FM, Bosch AM, Huigen MCDG

JIMD reports, 2021 Mar

doi: 10.1002/jmd2.12186

Publicaties Centrum voor UCD en OA