Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

Autor: Lisette H. Koens, Inge Tuitert, Hans Blokzijl, Marc Engelen, Femke C. C. Klouwer, Fiete Lange, Wilhelmina G. Leen, Roelineke J. Lunsing, Johannes H. T. M. Koelman, Aad Verrips, Tom J. de Koning, Marina A. J. Tijssen

Publikováno v: Journal of Inherited Metabolic Disease, 45(5), 981-995. SPRINGER
Journal of Inherited Metabolic Disease, 45(5), 981-995. Springer Netherlands
Journal of inherited metabolic disease, 45(5), 981-995. Springer Netherlands

Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d074f508f7b15fc46638a37f5edabc58
https://pubmed.ncbi.nlm.nih.gov/35758105

Development and validation of a severity scoring system for Zellweger spectrum disorders

Autor: Anke Meester-Delver, Raoul C.M. Hennekam, Hans R. Waterham, Bwee Tien Poll-The, Frédéric M. Vaz, Femke C. C. Klouwer

Publikováno v: Clinical Genetics. 93:613-621

The lack of a validated severity scoring system for individuals with Zellweger spectrum disorders (ZSD) hampers optimal patient care and reliable research. Here, we describe the development of such severity score and its validation in a large, well-c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a55085c4f7266d2ab5e40339e030acea
https://doi.org/10.1111/cge.13130

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

Autor: Sacha Ferdinandusse, Femke C. C. Klouwer, Frédéric M. Vaz, Ronald J.A. Wanders, Wim Kulik, Henk van Lenthe, Hans R. Waterham, Bwee Tien Poll-The

Publikováno v: Journal of inherited metabolic disease, 40(6), 875-881. Springer Netherlands

Introduction Zellweger spectrum disorders (ZSD) are a group of genetic metabolic disorders caused by a defect in peroxisome biogenesis. This results in multiple metabolic abnormalities, including elevated very long-chain fatty acid (VLCFA) levels. El

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94498d182e8800047474425f22b445f
https://doi.org/10.1007/s10545-017-0064-0

Early thyroxine treatment in Down syndrome and thyroid function later in life

Autor: Nitash Zwaveling-Soonawala, Nadine A. Ikelaar, Eric Fliers, Jan Pieter Marchal, Rick R. van Rijn, Femke C. C. Klouwer, Erik Endert, A S Paul van Trotsenburg, Anne M. J. B. Smets, M. Emma Witteveen

Publikováno v: European journal of endocrinology / European Federation of Endocrine Societies, 176(5), 505-513. BioScientifica Ltd.

Objective The hypothalamus–pituitary–thyroid (HPT) axis set point develops during the fetal period and first two years of life. We hypothesized that thyroxine treatment during these first two years, in the context of a randomized controlled trial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c34f6dea191cd52d33a763c15342c8f
https://doi.org/10.1530/eje-16-0858

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

Autor: Marc Engelen, Kevin Berendse, Miangela M Lacle, Bwee Tien Poll-The, Frank Roels, Femke C. C. Klouwer, Joanne Verheij, Peter G.J. Nikkels, Bart G. P. Koot

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
Journal of inherited metabolic disease, 42(5), 955-965. Springer Netherlands

Patients with a Zellweger spectrum disorder (ZSD) have a defect in the assembly or maintenance of peroxisomes, leading to a multisystem disease with variable outcome. Liver disease is an important feature in patients with severe and milder phenotypes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26398b57937b2d356a73b4a79cac6c8e
https://pubmed.ncbi.nlm.nih.gov/31150129