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Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand.
Published in:
2008
By:
- Huidekoper, Hidde H.;
- Duran, Marinus;
- Turkenburg, Marjolein;
- Ackermans, Mariëtte T.;
- Sauerwein, Hans P.;
- Wijburg, Frits A.;
- Ackermans, Mariëtte T
Publication type:
journal article
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.
Published in:
Metabolites (2218-1989), 2019, v. 9, n. 12, p. 289, doi. 10.3390/metabo9120289
By:
- 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.
Publication type:
Article
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
Published in:
2016
By:
- Huidekoper, Hidde;
- Vaz, Frédéric;
- Verrips, Aad;
- Bosch, Annet;
- Huidekoper, Hidde H;
- Vaz, Frédéric M;
- Bosch, Annet M
Publication type:
journal article
Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.
Published in:
Digestive Diseases, 2017, v. 35, n. 3, p. 259, doi. 10.1159/000450984
By:
- Vaz, Frédéric M.;
- Huidekoper, Hidde H.;
- Paulusma, Coen C.
Publication type:
Article
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Published in:
Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1414, doi. 10.3390/biom13091414
By:
- Ditters, Imke A. M.;
- van Kooten, Harmke A.;
- van der Beek, Nadine A. M. E.;
- van der Ploeg, Ans T.;
- Huidekoper, Hidde H.;
- van den Hout, Johanna M. P.
Publication type:
Article
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02715-4
By:
- Ditters, Imke A. M.;
- van der Beek, Nadine A. M. E.;
- Brusse, Esther;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.;
- Huidekoper, Hidde H.
Publication type:
Article
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 12, doi. 10.1002/jmd2.12223
By:
- Hagemeijer, Marne C.;
- Oussoren, Esmee;
- Ruijter, George J. G.;
- Onkenhout, Willem;
- Huidekoper, Hidde H.;
- Ebberink, Merel S.;
- Waterham, Hans R.;
- Ferdinandusse, Sacha;
- de Vries, Maaike C.;
- Huigen, Marleen C. D. G.;
- Kluijtmans, Leo A. J.;
- Coene, Karlien L. M.;
- Blom, Henk J
Publication type:
Article
Quality of life in children with erythropoietic protoporphyria: a case–control study.
Published in:
Journal of Dermatology, 2024, v. 51, n. 8, p. 1068, doi. 10.1111/1346-8138.17348
By:
- Kluijver, Louisa G.;
- Wensink, Debby;
- Wagenmakers, Margreet A. E. M.;
- Huidekoper, Hidde H.;
- Witters, Peter;
- Rymen, Daisy;
- Langendonk, Janneke G.
Publication type:
Article
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1094, doi. 10.1002/jimd.12548
By:
- Hermans, Merel E.;
- van Weeghel, Michel;
- Vaz, Frédéric M.;
- Ferdinandusse, Sacha;
- Hollak, Carla E. M.;
- Huidekoper, Hidde H.;
- Janssen, Mirian C. H.;
- van Kuilenburg, André B. P.;
- Pras‐Raves, Mia L.;
- Wamelink, Mirjam M. C.;
- Wanders, Ronald J. A.;
- Welsink‐Karssies, Mendy M.;
- Bosch, Annet M.
Publication type:
Article
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 819, doi. 10.1002/jimd.12503
By:
- Schwantje, Marit;
- Ebberink, Merel S.;
- Doolaard, Mirjam;
- Ruiter, Jos P. N.;
- Fuchs, Sabine A.;
- Darin, Niklas;
- Hedberg‐Oldfors, Carola;
- Régal, Luc;
- Donker Kaat, Laura;
- Huidekoper, Hidde H.;
- Olpin, Simon;
- Cole, Duncan;
- Moat, Stuart J.;
- Visser, Gepke;
- Ferdinandusse, Sacha
Publication type:
Article
The 1‐<sup>13</sup>C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 507, doi. 10.1002/jimd.12207
By:
- Welsink‐Karssies, Mendy M.;
- 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;
- Vries, Maaike C.;
- Wijburg, Frits A.;
- Schierbeek, Henk;
- Bosch, Annet M.
Publication type:
Article
Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 878, doi. 10.1002/jimd.12147
By:
- Rijt, Willemijn J.;
- Ferdinandusse, Sacha;
- Giannopoulos, Panagiotis;
- Ruiter, Jos P. N.;
- Boer, Lonneke;
- Bosch, Annet M.;
- Huidekoper, Hidde H.;
- Rubio‐Gozalbo, M. Estela;
- Visser, Gepke;
- Williams, Monique;
- Wanders, Ronald J. A.;
- Derks, Terry G. J.
Publication type:
Article
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 641, doi. 10.1007/s10545-017-0086-7
By:
- Stelten, Bianca M. L.;
- Bonnot, Olivier;
- Huidekoper, Hidde H.;
- van Spronsen, Francjan J.;
- van Hasselt, Peter M.;
- Kluijtmans, Leo A. J.;
- Wevers, Ron A.;
- Verrips, Aad
Publication type:
Article
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 56, doi. 10.3390/ijns9040056
By:
- Veldman, Abigail;
- Kiewiet, M. B. Gea;
- Westra, Dineke;
- Bosch, Annet M.;
- Brands, Marion M. G.;
- de Coo, René I. F. M.;
- Derks, Terry G. J.;
- Fuchs, Sabine A.;
- van den Hout, Johanna. M. P.;
- Huidekoper, Hidde H.;
- Kluijtmans, Leo A. J.;
- Koop, Klaas;
- Lubout, Charlotte M. A.;
- Mulder, Margaretha F.;
- Panis, Bianca;
- Rubio-Gozalbo, M. Estela;
- de Sain-van der Velden, Monique G.;
- Schaefers, Jaqueline;
- Schreuder, Andrea B.;
- Visser, Gepke
Publication type:
Article
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
Published in:
BioDrugs, 2023, v. 37, n. 5, p. 685, doi. 10.1007/s40259-023-00609-2
By:
- Ditters, Imke A. M.;
- van Kooten, Harmke A.;
- van der Beek, Nadine A. M. E.;
- Hardon, Jacqueline F.;
- Ismailova, Gamida;
- Brusse, Esther;
- Kruijshaar, Michelle E.;
- van der Ploeg, Ans T.;
- van den Hout, Johanna M. P.;
- Huidekoper, Hidde H.
Publication type:
Article

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