Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients

Autor: Johannes H. M. Merks, Gertjan L. Kaspers, C. Michel Zwaan, Nico G.G.M. Abeling, Susan M. I. Goorden, Max M. van Noesel, Marta Fiocco, Godelieve A.M. Tytgat, Frédéric M. Vaz, Huib N. Caron, André B. P. van Kuilenburg, I.R.N. Verly

Publikováno v: European journal of cancer (Oxford, England, 72, 235-243. Elsevier Limited
European Journal of Cancer, 72, 235-243. Pergamon
Verly, I R N, van Kuilenburg, A B P, Abeling, N G G M, Goorden, S M I, Fiocco, M, Vaz, F M, van Noesel, M M, Zwaan, C M, Kaspers, G L, Merks, J H M, Caron, H N & Tytgat, G A M 2017, ' Catecholamines profiles at diagnosis : Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients ', European Journal of Cancer, vol. 72, pp. 235-243 . https://doi.org/10.1016/j.ejca.2016.12.002
European Journal of Cancer, 72, 235-243. Elsevier Ltd.

INTRODUCTION: Neuroblastoma (NBL) accounts for 10% of the paediatric malignancies and is responsible for 15% of the paediatric cancer-related deaths. Vanillylmandelic acid (VMA) and homovanillic acid (HVA) are most commonly analysed in urine of NBL p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33e457176e5f8d7220263a786b27b686
https://doi.org/10.1016/j.ejca.2016.12.002

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Autor: Kayoko Saito, Yasuhiro Takeshima, Akira Yoneyama, Kaoru Eto, Hiroshi Mitsubuchi, Nico G.G.M. Abeling, Doreen Dobritzsch, Rutger Meinsma, Tetsuya Ito, André B. P. van Kuilenburg, Yoko Nakajima, Yoriko Watanabe, Judith Meijer, Tomiko Kuhara, Lida Zoetekouw, Jeroen Roelofsen, Kazuhide Ohta, Tomoko Lee, Kyoko Tashiro

Publikováno v: Journal of inherited metabolic disease, 37(5), 801-812. Springer Netherlands
Journal of Inherited Metabolic Disease

beta-ureidopropionase (beta UP) deficiency is an autosomal recessive disease characterized by N-carbamyl-beta-amino aciduria. To date, only 16 genetically confirmed patients with beta UP deficiency have been reported. Here, we report on the clinical,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf800c04db4f889dc208e3b3688325d
https://doi.org/10.1007/s10545-014-9682-y

Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia – relationship with COMT Val108/158 Met polymorphism, gender and symptomatology

Autor: Janneke Zinkstok, Nico G.G.M. Abeling, Julia H. Meijer, Frank Baas, Erik Boot, Don H. Linszen, Therese van Amelsvoort, Fabiana da Silva Alves, Jan Booij

Publikováno v: Journal of Psychopharmacology. 25:888-895

22q11 Deletion syndrome (22q11DS) is a major risk factor for schizophrenia. In addition, both conditions are associated with alterations of the dopaminergic system. The catechol- O-methyltransferase (COMT) gene, located within the deleted region, enc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c5dbed71db31d1df02cb3fdd4a7ab0b1
https://doi.org/10.1177/0269881111400644

Disrupted Dopaminergic Neurotransmission in 22q11 Deletion Syndrome

Autor: Jan Booij, Janneke Zinkstok, Therese van Amelsvoort, Erik Boot, Frank Baas, Nico G.G.M. Abeling, Don H. Linszen, Lieuwe de Haan

Publikováno v: Neuropsychopharmacology, 33(6), 1252-1258. Nature Publishing Group

22q11 Deletion syndrome (22q11DS) is associated with chromosome 22q11 microdeletions and high rates of psychiatric disorders. Susceptibility for these disorders could be explained by haploinsufficiency of the catechol-O-methyltransferase gene, which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ed506ec983afc75b2deaf708bc2dde3
https://doi.org/10.1038/sj.npp.1301508

Report of Two Never Treated Adult Sisters with Aromatic L-Amino Acid Decarboxilase Deficiency A Portrait of the Natural History of the Disease or an Expanding Phenotype?

Autor: Rita Barone, Lida Zoetekouw, Martino Ruggieri, Agata Polizzi, Barbara Tavazzi, Nico G.G.M. Abeling, Vincenzo Leuzzi, Mario Mastrangelo, Vito Sofia, Claudia Carducci, André B.P. van Kuilenburg, Cristiana Artiola, Mario Zappia, Carla Carducci

Publikováno v: JIMD reports, 15, 39-45. Springer Berlin

Two sisters were diagnosed in their adulthood with aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM#608643). They experienced early myasthenia-like manifestations, myoclonic jerks, oculogyric crises, tremors, and developmental delay during

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d508161a7fd770441ba0c7946d32ca28
http://hdl.handle.net/20.500.11769/54449