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Publications Center for UCD and OA

28 results

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

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.

Molema F, Jacobs EH, Onkenhout W, Schoonderwoerd GC, Langendonk JG, Williams M

Journal of inherited metabolic disease, 2018 11

doi: 10.1007/s10545-018-0244-6

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.

Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ

Behavior genetics, 2017 09

doi: 10.1007/s10519-017-9863-1

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

Jahja R, Huijbregts SCJ, de Sonneville LMJ, van der Meere JJ, Legemaat AM, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, van Spronsen FJ

Neuropsychology, 2017 May

doi: 10.1037/neu0000358

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M

European journal of human genetics : EJHG, 2016 10

doi: 10.1038/ejhg.2016.65

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study.

Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ

Journal of inherited metabolic disease, 2016 05

doi: 10.1007/s10545-016-9918-0

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM

Journal of inherited metabolic disease, 2015 Sep

doi: 10.1007/s10545-015-9841-9