Changes in body size and body composition in survivors of childhood cancer

Autor: Aeltsje Brinksma, Esther Sulkers, Dorus Kouwenberg, Otto T.H.M. Lelieveld, Annemieke M. Boot, Johannes G.M. Burgerhof, Wim J.E. Tissing

Publikováno v: Clinical Nutrition, 41(12), 2778-2785. Churchill Livingstone

Background & aims: Cancer treatment is known to have impact on nutritional status, and both underweight and overweight have been reported in several studies in survivors. A limitation of most studies is that they relied on retrospective data or were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6528b51c70a55ddf5e9dd403a403062e
https://hdl.handle.net/11370/ca6777c4-a77b-498d-a39b-6ff52c74064b

Perinatal and early infantile symptoms in congenital disorders of glycosylation

Autor: Adrienne Horvath, Ron A. Wevers, Simone Funke, Miski Mohamed, Lihadh Al-Gazali, Dirk J. Lefeber, Eva Morava, Thatjana Gardeitchik, Maciej Adamowicz, Eckhard Korsch, Saskia B. Wortmann, Dorus Kouwenberg

Publikováno v: American Journal of Medical Genetics. Part A, 161, 3, pp. 578-84
American Journal of Medical Genetics. Part A, 161, 578-84

Item does not contain fulltext Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca69670e6bacd74b7c19e03eb372fa3c
https://hdl.handle.net/2066/118945

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

Autor: van FrancJan Spronsen, Ron A. Wevers, Saskia B. Wortmann, Helen Michelakakis, B. Chan Lim, Gert Matthijs, Maciej Adamowicz, Eckhard Korsch, Dirk J. Lefeber, Klaziena Niezen-Koning, Renate Zeevaert, Thatjana Gardeitchik, Maïlys Guillard, Eva Morava, Dorus Kouwenberg, Miski Mohamed, Berthold Koletzko, Eliška Marklová, Sebahattin Cirak

Publikováno v: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 691-8
Biochimica et biophysica acta-Molecular basis of disease, 1812(6), 691-698. ELSEVIER SCIENCE BV
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 691-8
Biochimica et Biophysica Acta-Molecular Basis of Disease
Biochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2011, ⟨10.1016/j.bbadis.2011.02.011⟩

Dysmorphic features, multisystem disease, and central nervous system involvement are common symptoms in congenital disorders of glycosylation, including several recently discovered Golgi-related glycosylation defects. In search for discriminative fea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10840f1328696369bf1cd44cd1f34e82
https://hdl.handle.net/2066/95723

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

Autor: Thatjana Gardeitchik, Eva Morava, Ron A. Wevers, Dorus Kouwenberg, Johannes Häberle

Publikováno v: American Journal of Medical Genetics. Part A, 155A, 9, pp. 2331-2; author reply 2333-4
American Journal of Medical Genetics. Part A, 155A, 2331-2; author reply 2333-4

Contains fulltext : 97299.pdf (Publisher’s version ) (Closed access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e56d0c434f6ecb666b95e37bfeb877d
https://hdl.handle.net/2066/97299

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Autor: Hélène Ogier de Baulny, Jaak Jaeken, Frits A. Wijburg, Joanna L. Elson, Regina Ensenauer, Ron A. Wevers, Dorus Kouwenberg, Thatjana Gardeitchik, Miranda Theodore, Robert McFarland, Miski Mohamed, Maaike de Vries, Samira Achouitar, Stephanie Grunewald, Jolanta Sykut-Cegielska, Saskia B. Wortmann, Katrin Õunap, Diego Martinelli, Leo G.J. Nijtmans, Eva Morava

Publikováno v: Journal of inherited metabolic disease, 34(4), 923-927. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 923-7
Journal of Inherited Metabolic Disease, 34, 923-7

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5562b8b7ba547d43e4fecc43b6771de