Cystine Dimethylester Model of Cystinosis: Still Reliable?

Autor: Leo A. H. Monnens, Lambertus P. van den Heuvel, Henk J. Blom, Martijn J. Wilmer, Henk-Jan Visch, Adriana de Graaf-Hess, Elena Levtchenko, Peter H.G.M. Willems, Sjoerd Verkaart

Publikováno v: Pediatric Research, 62, 151-5
Pediatric Research, 62, 2, pp. 151-5

Contains fulltext : 52538.pdf (Publisher’s version ) (Closed access) The ability of cystine dimethylester (CDME) to load lysosomes with cystine has been used to establish the basic defect in cystinosis: defective cystine exodus from lysosomes. Usin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63cca97493eb32e2d348a237c68dae36
https://doi.org/10.1203/pdr.0b013e31809fd9a7

The homocysteine distribution

Autor: Frans J.M. Trijbels, W M Monique Verschuren, Angelika de Bree, Daan Kromhout, Henk J. Blom, Adriana de Graaf-Hess

Publikováno v: Journal of Clinical Epidemiology. 54:462-469

The nonfasting plasma total homocysteine (P-tHcy) concentration was measured in a random sample of 3025 Dutch adults aged 20-65 years (main study). The positively skewed distribution had a geometric mean of 13.9 micromol/L in men and 12.6 micromol/L

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c4d9ce3cbf4496750da9994e3dfd925
https://doi.org/10.1016/s0895-4356(00)00341-3

Altered folate and vitamin B12 metabolism in families with spina bifida offspring

Autor: Edwin C. M. Mariman, Henk J. Blom, N.M.J. van der Put, Chris M.G. Thomas, Régine P.M. Steegers-Theunissen, Tom K.A.B. Eskes, F.J.M. Trijbels, A.C. de Graaf-Hess, Jan A.M. Smeitink

Publikováno v: QJM. 90:505-510

Folic acid intake reduces the risk of neural tube defects (NTDs). Although the 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene is a risk factor for NTDs, it only partly explains the elevated homocysteine levels in mothe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d04444da2653628e06feaa9dccb322b
https://doi.org/10.1093/qjmed/90.8.505

The origin of halitosis in cystinotic patients due to cysteamine treatment

Autor: Adriana de Graaf-Hess, Albert Tangerman, Martine Besouw, Elena Levtchenko, Henk J. Blom

Publikováno v: Molecular Genetics and Metabolism, 91, 228-33
Molecular Genetics and Metabolism, 91, 3, pp. 228-33
Molecular Genetics and Metabolism, 91(3), 228-233. ACADEMIC PRESS INC ELSEVIER SCIENCE

Contains fulltext : 52442.pdf (Publisher’s version ) (Closed access) INTRODUCTION: Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation of cystine. Cysteamine removes cystine from the lysosome and slows

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bb854129bf652315eb4b11829e1f5da
https://doi.org/10.1016/j.ymgme.2007.04.002

Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells

Autor: Henry B.P.M. Dijkman, Elena Levtchenko, Martijn J. Wilmer, Leo A. H. Monnens, Henk J. Blom, Lambertus P. van den Heuvel, Adriana de Graaf-Hess

Publikováno v: Biochemical and Biophysical Research Communications, 337, 610-4
Biochemical and Biophysical Research Communications, 337, 2, pp. 610-4

Contains fulltext : 48125.pdf (Publisher’s version ) (Closed access) Cystinosis, the most frequent cause of inborn Fanconi syndrome, is characterized by the lysosomal cystine accumulation, caused by mutations in the CTNS gene. To elucidate the path

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4477550d54bfc16924bce00526ce62bd
https://pubmed.ncbi.nlm.nih.gov/16202976