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Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance.
Published in:
2012
By:
- Brouwer PA;
- Lubout CM;
- van Dijk JM;
- Vleggeert-Lankamp CL;
- Brouwer, Patrick A;
- Lubout, Charlotte M;
- van Dijk, J Marc;
- Vleggeert-Lankamp, Carmen L
Publication type:
journal article
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐reported outcome measures.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 29, doi. 10.1002/jmd2.12253
By:
- Venema, Annieke;
- Peeks, Fabian;
- de Bruijn‐van der Veen, Marlies;
- de Boer, Foekje;
- Fokkert‐Wilts, Marieke J.;
- Lubout, Charlotte M. A.;
- Huskens, Bibi;
- Dumont, Eric;
- Mulkens, Sandra;
- Derks, Terry G. J.
Publication type:
Article
Understanding the protein structure (amino corrosive) found in food and its disorders.
Published in:
African Journal of Diabetes Medicine, 2022, v. 30, n. 5, p. 1
By:
- Lubout, Charlotte M. A.
Publication type:
Article
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Published in:
2023
By:
- Shelkowitz, Emily;
- Saneto, Russell P.;
- Al-Hertani, Walla;
- Lubout, Charlotte M. A.;
- Stence, Nicholas V.;
- Brown, Mark S.;
- Long, Patrick;
- Walleigh, Diana;
- Nelson, Julie A.;
- Perez, Francisco E.;
- Shaw, Dennis W. W.;
- Michl, Emma J.;
- Van Hove, Johan L. K.
Publication type:
Correction Notice
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Published in:
2022
By:
- Shelkowitz, Emily;
- Saneto, Russell P.;
- Al-Hertani, Walla;
- Lubout, Charlotte M. A.;
- Stence, Nicholas V.;
- Brown, Mark S.;
- Long, Patrick;
- Walleigh, Diana;
- Nelson, Julie A.;
- Perez, Francisco E.;
- Shaw, Dennis W. W.;
- Michl, Emma J.;
- Van Hove, Johan L. K.
Publication type:
journal article
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 350, doi. 10.1111/cge.14182
By:
- Leeuwen, Lisette;
- Lubout, Charlotte M. A.;
- Nijenhuis, Hessel P.;
- Meiners, Linda C.;
- Vos, Yvonne J.;
- Herkert, Johanna C.
Publication type:
Article
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1124, doi. 10.1002/jimd.12386
By:
- Rossi, Alessandro;
- Hoogeveen, Irene J.;
- Lubout, Charlotte M. A.;
- de Boer, Foekje;
- Fokkert‐Wilts, Marieke J.;
- Rodenburg, Iris L.;
- van Dam, Esther;
- Grünert, Sarah C.;
- Martinelli, Diego;
- Scarpa, Maurizio;
- Dekker, Hanka;
- te Boekhorst, Sebastiaan T.;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
Bone mineral density is within normal range in most adult phenylketonuria patients.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 251, doi. 10.1002/jimd.12177
By:
- Lubout, Charlotte M. A.;
- Blanco, Francisco Arrieta;
- Bartosiewicz, Katarzyna;
- Feillet, François;
- Gizewska, Maria;
- Hollak, Carla;
- Lee, Johanna H.;
- Maillot, François;
- Stepien, Karolina M.;
- Wagenmakers, Margreet A. E. M.;
- Welsink‐Karssies, Mendy M.;
- Spronsen, Francjan J.;
- Bosch, Annet M.
Publication type:
Article
The first European guidelines on phenylketonuria: Usefulness and implications for BH<sub>4</sub> responsiveness testing.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 244, doi. 10.1002/jimd.12173
By:
- Evers, Roeland A. F.;
- Wegberg, Annemiek M. J.;
- Anjema, Karen;
- Lubout, Charlotte M. A.;
- Dam, Esther;
- Vliet, Danique;
- Blau, Nenad;
- Spronsen, Francjan J.
Publication type:
Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
By:
- Hoogeveen, Irene J.;
- Peeks, Fabian;
- de Boer, Foekje;
- Lubout, Charlotte M. A.;
- de Koning, Tom J.;
- te Boekhorst, Sebastiaan;
- Zandvoort, Robert‐Jan;
- Burghard, Rob;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 929, doi. 10.1007/s10545-018-0167-2
By:
- Hoogeveen, Irene J.;
- Peeks, Fabian;
- de Boer, Foekje;
- Lubout, Charlotte M. A.;
- de Koning, Tom J.;
- te Boekhorst, Sebastiaan;
- Zandvoort, Robert-Jan;
- Burghard, Rob;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 66, doi. 10.3390/ijns9040066
By:
- Dijkstra, Allysa M.;
- Evers-van Vliet, Kimber;
- Heiner-Fokkema, M. Rebecca;
- Bodewes, Frank A. J. A.;
- Bos, Dennis K.;
- Zsiros, József;
- van Aerde, Koen J.;
- Koop, Klaas;
- van Spronsen, Francjan J.;
- Lubout, Charlotte M. A.
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
Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.
Published in:
Nutrients, 2022, v. 14, n. 19, p. 3961, doi. 10.3390/nu14193961
By:
- Haitjema, Sietske;
- Lubout, Charlotte M. A.;
- Zijlstra, Justine H. M.;
- Wolffenbuttel, Bruce H. R.;
- van Spronsen, Francjan J.
Publication type:
Article

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