Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report

por Wensink, Debby, Wagenmakers, Margreet AEM, Wilson, JH Paul, Langendonk, Janneke G
Publicado 2019

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

por Vroegindeweij, Lena H. P., Boon, Agnita J. W., Wilson, J. H. Paul, Langendonk, Janneke G.
Publicado 2020

Primary carnitine deficiency is a life‐long disease

por Crefcoeur, Loek L., Melles, Mireille C., Bruning, Tobias A., Pereira, Rob Rodrigues, Langendonk, Janneke G.
Publicado 2022

Genetic Variant in the IGF2BP2 Gene May Interact With Fetal Malnutrition to Affect Glucose Metabolism

por van Hoek, Mandy, Langendonk, Janneke G., de Rooij, Susanne R., Sijbrands, Eric J.G., Roseboom, Tessa J.
Publicado 2009

Variants in the SIRT1 Gene May Affect Diabetes Risk in Interaction With Prenatal Exposure to Famine

por Botden, Ilse P.G., Zillikens, M. Carola, de Rooij, Susanne R., Langendonk, Janneke G., Danser, A.H. Jan, Sijbrands, Eric J.G., Roseboom, Tessa J.
Publicado 2012

Clinical Remission of Delta‐Aminolevulinic Acid Dehydratase Deficiency Through Suppression of Erythroid Heme Synthesis

por Neeleman, Rochus A., van Beers, Eduard J., Friesema, Edith C., Koole‐Lesuis, Rita, van der Pol, Willem L., Wilson, J.H. Paul, Langendonk, Janneke G.
Publicado 2019

Failing beta-cell adaptation in South Asian families with a high risk of type 2 diabetes

por Jainandunsing, Sjaam, Özcan, Behiye, Rietveld, Trinet, van Miert, Joram N. I., Isaacs, Aaron J., Langendonk, Janneke G., de Rooij, Felix W. M., Sijbrands, Eric J. G.
Publicado 2014

Medical and financial burden of acute intermittent porphyria

por Neeleman, Rochus A., Wagenmakers, Margreet A. E. M., Koole-Lesuis, Rita H., Mijnhout, G. Sophie, Wilson, J. H. Paul, Friesema, Edith C. H., Langendonk, Janneke G.
Publicado 2018

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

por Bonte, Ramon, Bongaerts, Michiel, Demirdas, Serwet, Langendonk, Janneke G., Huidekoper, Hidde H., Williams, Monique, Onkenhout, Willem, Jacobs, Edwin H., Blom, Henk J., Ruijter, George J. G.
Publicado 2019

Off‐resonance saturation as an MRI method to quantify mineral‐ iron in the post‐mortem brain

por Bossoni, Lucia, Hegeman‐Kleinn, Ingrid, van Duinen, Sjoerd G., Bulk, Marjolein, Vroegindeweij, Lena H. P., Langendonk, Janneke G., Hirschler, Lydiane, Webb, Andrew, van der Weerd, Louise
Publicado 2021

Hyperoxia increases arterial oxygen pressure during exercise in type 2 diabetes patients: a feasibility study

por Rozenberg, Robert, Mankowski, Robert T., van Loon, Luc J. C., Langendonk, Janneke G., Sijbrands, Eric J. G., van den Meiracker, Anton H., Stam, Henk J., Praet, Stephan F. E.
Publicado 2016

Quantification of different iron forms in the aceruloplasminemia brain to explore iron-related neurodegeneration

por Vroegindeweij, Lena H.P., Bossoni, Lucia, Boon, Agnita J.W., Wilson, J.H. Paul, Bulk, Marjolein, Labra-Muñoz, Jacqueline, Huber, Martina, Webb, Andrew, van der Weerd, Louise, Langendonk, Janneke G.
Publicado 2021

Introduction of the DiaGene study: clinical characteristics, pathophysiology and determinants of vascular complications of type 2 diabetes

por van Herpt, Thijs T. W., Lemmers, Roosmarijn F. H., van Hoek, Mandy, Langendonk, Janneke G., Erdtsieck, Ronald J., Bravenboer, Bert, Lucas, Annelies, Mulder, Monique T., Haak, Harm R., Lieverse, Aloysius G., Sijbrands, Eric J. G.
Publicado 2017

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

por Welsink-Karssies, Mendy M., Oostrom, Kim J., Hermans, Merel E., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Oussoren, Esmee, Rubio Gozalbo, M. Estela, de Vries, Maaike, Geurtsen, Gert J., Bosch, Annet M.
Publicado 2020

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

por Welsink-Karssies, Mendy M., Oostrom, Kim J., Hermans, Merel E., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Oussoren, Esmee, Rubio Gozalbo, M. Estela, de Vries, Maaike, Geurtsen, Gert J., Bosch, Annet M.
Publicado 2020

Mucolipidosis type III, a series of adult patients

por Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janneke G., van der Ploeg, Ans T., Langeveld, Mirjam
Publicado 2018

The 1‐(13)C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

por Welsink‐Karssies, Mendy M., van Harskamp, Dewi, Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., Kemper, E. Marleen, Langendonk, Janneke G., Rubio‐Gozalbo, M. Estela, de Vries, Maaike C., Wijburg, Frits A., Schierbeek, Henk, Bosch, Annet M.
Publicado 2020

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia

por Haring, Martijn P.D., Peeks, Fabian, Oosterveer, Maaike H., Brouwers, Martijn C.G.J., Hollak, Carla E.M., Janssen, Mirian C.H., Langendonk, Janneke G., Rennings, Alexander J.M., Wagenmakers, Margreet A.E.M., Verkade, Henkjan J., Derks, Terry G.J., de Meijer, Vincent E.
Publicado 2022

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

por Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J.
Publicado 2016

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

por Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J.
Publicado 2017