Monique Williams

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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

A. De Grassi, J. Abdenur, P. Lennertz, 2017, Journal of Inherited Metabolic Disease.

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

L. Kluijtmans, A. Heijboer, A. Boelen, 2020, JIMD reports.

A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

H. Waterham, T. Derks, M. D. De Vries, 2019, Journal of inherited metabolic disease.

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

A. Ribes, M. Wajner, B. Merinero, 2006, Pediatric Research.

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

S. Kölker, D. Martinelli, C. Dionisi-Vici, 2020, Journal of inherited metabolic disease.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

J. Abdenur, M. Tassini, N. Dorison, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A series of pregnancies in women with inherited metabolic disease

R. Lachmann, T. Ben-Omran, E. Murphy, 2012, Journal of Inherited Metabolic Disease.

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.

T. Derks, A. Boelen, M. D. De Vries, 2017, Molecular Genetics and Metabolism.

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.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

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

S. Kölker, P. Burgard, A. Lund, 2019, Journal of inherited metabolic disease.

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature

E. Brusse, M. Wagenmakers, J. Langendonk, 2020, JIMD reports.

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?

M. Langeveld, J. Jans, M. D. De Vries, 2019, Journal of inherited metabolic disease.

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

S. Ferdinandusse, R. Houtkooper, R. Wanders, 2022, Journal of Inherited Metabolic Disease.

Low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia: Two lifetime journeys of lipid-lowering therapy.

E. Sijbrands, J. E. Roeters van Lennep, Monique Williams, 2017, Journal of clinical lipidology.

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

J. Saris, M. Kruijshaar, A. T. van der Ploeg, 2016, European Journal of Human Genetics.

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

J. Langendonk, Monique Williams, W. Onkenhout, 2018, Journal of Inherited Metabolic Disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature

M. Breuning, C. Peeters-Scholte, S. Goorden, 2020, Journal of child neurology.

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

F. de Boer, T. Derks, M. Oosterveer, 2017, Journal of Inherited Metabolic Disease.

Clinical and biochemical heterogeneity between patients with glycogen storage disease type

T. Derks, M. Oosterveer, D. A. Weinstein, 2017 .

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

R. Lachmann, T. Derks, M. Tijssen, 2019, Journal of inherited metabolic disease.

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

M. Baumgartner, M. Hochuli, S. Grünert, 2021, Journal of inherited metabolic disease.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

M. Tuchman, Myrthe van den Born, J. Saris, 2018, Scientific Reports.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

L. Hoefsloot, G. Geeven, G. Mancini, 2023, American journal of human genetics.

Incidental finding of alpha‐methylacyl‐CoA racemase deficiency in a patient with oculocutaneous albinism type 4

A. Brooks, C. Wouters, J. Huijmans, 2012, American journal of medical genetics. Part A.

Chapter 42 – Screening for Neonatal Genetic Disorders

Monique Williams, 2006 .

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients

G. Visser, F. Wijburg, F. V. van Spronsen, 2016, European Journal of Pediatrics.

Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

M. Baumgartner, S. Kölker, J. Schmiesing, 2020, Journal of inherited metabolic disease.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

S. Ferdinandusse, H. Waterham, R. Wanders, 2019, Journal of inherited metabolic disease.

Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

S. Ferdinandusse, R. Wanders, T. Derks, 2019, Journal of inherited metabolic disease.

Proposal for an individualized dietary strategy in patients with very long‐chain acyl‐CoA dehydrogenase deficiency

S. Ferdinandusse, H. Waterham, T. Derks, 2018, Journal of inherited metabolic disease.

Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.

S. Ferdinandusse, H. Waterham, R. Wanders, 2019 .

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

S. Ferdinandusse, H. Waterham, T. Derks, 2018, Journal of Inherited Metabolic Disease.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

W. Chung, A. Heijboer, R. Lapatto, 2018, Journal of inherited metabolic disease.

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

M. Durán, G. Mancini, M. V. van Slegtenhorst, 2017, American journal of medical genetics. Part A.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Yair Anikster, H. Kayserili, Y. Anikster, 2017, Human mutation.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform

Ramon Bonte, Michiel Bongaerts, Serwet Demirdas, 2019, Metabolites.

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

R. Neeleman, J. Langendonk, Monique Williams, 2019, Genetics in Medicine.