Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

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

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome.

Molema F, Haijes HA, Janssen MC, Bosch AM, van Spronsen FJ, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Fuchs S, Langendonk JG, Rizopoulos D, van Hasselt PM, Williams M

Clinical nutrition (Edinburgh, Scotland), 2021 05

doi: 10.1016/j.clnu.2020.12.027

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM

Journal of inherited metabolic disease, 2020 05

doi: 10.1002/jimd.12193

[Reduced consciousness levels caused by hyperammonaemia].

Driessen LM, du Pré BC, Schuit SCE, Langendonk JG, Zandbergen AAM, Wagenmakers MAEM

Nederlands tijdschrift voor geneeskunde, 2019 10 10

doi: D4013

Bone mineral density is within normal range in most adult phenylketonuria patients.

Lubout CMA, Arrieta Blanco F, Bartosiewicz K, Feillet F, Gizewska M, Hollak C, van der Lee JH, Maillot F, Stepien KM, Wagenmakers MAEM, Welsink-Karssies MM, van Spronsen FJ, Bosch AM

Journal of inherited metabolic disease, 2020 Mar

doi: 10.1002/jimd.12177

Heme as an initial treatment for severe decompensation in tyrosinemia type 1.

Neeleman RA, Wilson JHP, Williams M, Langendonk JG

Genetics in medicine : official journal of the American College of Medical Genetics, 2020 02

doi: 10.1038/s41436-019-0658-z

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M,

Molecular genetics and metabolism, 2019 04

doi: 10.1016/j.ymgme.2019.02.003

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M,

Journal of inherited metabolic disease, 2019 11

doi: 10.1002/jimd.12066

Publicaties Centrum voor UCD en OA