Zobrazeno 1 - 10
of 130
pro vyhledávání: '"Rja Wanders"'
Autor:
L. Van Maldergem, Rja Wanders, David Tuerlinckx, F. Van Hoof, J. J. Martin, Christine Vianey-Saban, A. Bachy, Yves Gillerot, C. Fourneau
Publikováno v:
European journal of pediatrics, 159(1-2), 108-112. Springer Verlag
European journal of pediatrics
European journal of pediatrics
We present the clinical, pathological, biochemical, and molecular results on an infant girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and data on her deceased elder brother for whom this condition was retrospectively diagnosed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a79a66be4c0ad2f3c08725af3255749
https://doi.org/10.1007/s004310050022
https://doi.org/10.1007/s004310050022
Autor:
H Hebestreit, A Marx, Rbh Schutgens, Frank Roels, B Schmausser, Ingrid Kerckaert, Rja Wanders, Marc Espeel, Lothar Schrod
Publikováno v:
European journal of pediatrics, 155(12), 1035-1039. Springer Verlag
Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f19df899c8549592e9559f1bcb4de40
https://doi.org/10.1007/bf02532526
https://doi.org/10.1007/bf02532526
Publikováno v:
Journal of inherited metabolic disease, 14(2), 152-164. Springer Netherlands
We have studied the presence and subcellular localization of peroxisomal 3-oxoacylcoenzyme A thiolase, acylcoenzyme A oxidase and acyl-CoA: dihydroxyacetonephosphate acyltransferase (DHAPAT) in fibroblasts from control subjects and patients with an i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2da1067f69a6ae73218754f482031703
https://doi.org/10.1007/bf01800588
https://doi.org/10.1007/bf01800588
Autor:
Rja Wanders, D. Ketting, L. Ijlst, Marinus Duran, F. J. van Sprang, Lambertus Dorland, L. Bruinvis, J. P. de Jager
Publikováno v:
European journal of pediatrics, 150(3), 190-195. Springer Verlag
Two siblings were found to be affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, one of which died suddenly and unexpectedly on the 3rd day of life suffering from extreme hypoketotic hypoglycaemia. The younger sibling started to have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92258564e02a8f719dc20b8c0e9067b6
https://doi.org/10.1007/bf01963564
https://doi.org/10.1007/bf01963564
Autor:
J. B. C. de Klerk, L. Ijlst, Marinus Duran, Patrick Aubourg, C.A.J.M. Jakobs, F. Rocchiccioli, Rja Wanders, H. Przyrembel
Publikováno v:
Journal of inherited metabolic disease, 14(3), 325-328. Springer Netherlands
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::571c4952cdb34c028b1b4dfe6ac5661e
https://doi.org/10.1007/bf01811694
https://doi.org/10.1007/bf01811694
Autor:
Rja Wanders, L. Ijlst, C. Vianey-Liaud, Nathalie Cartier, P F Bougnères, M. Fabre, Francis Rocchiccioli, Patrick Aubourg
Publikováno v:
Pediatric research, 28(6), 657-662. Lippincott Williams and Wilkins
A child presented in early childhood with episodes of coma and hypoglycemia and a rapidly evolutive myopathy and cardiomyopathy leading to death at 9 mo of age. Ketosis was decreased (blood β-hydroxybutyrate: 0.07 mmol/L) despite normal plasma level
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eacca64475f805b46927d3028f1ce615
https://doi.org/10.1203/00006450-199012000-00023
https://doi.org/10.1203/00006450-199012000-00023
Publikováno v:
European journal of pediatrics, 149(10), 722-726. Springer Verlag
A progressive demyelinating cerebral disorder is described in a normally-appearing female infant with neonatal seizures, progressive psychomotor deterioration, deafness, retinopathy, peripheral neuropathy and loss of myelin observed on magnetic reson
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8cc45193de381611fd2d7cc130a910a
https://doi.org/10.1007/bf01959531
https://doi.org/10.1007/bf01959531
Publikováno v:
Neuropediatrics. 36
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::253af2514d91557f9c13d017ddc0d632
https://doi.org/10.1055/s-2005-868003
https://doi.org/10.1055/s-2005-868003
Publikováno v:
Biochemical and biophysical research communications, 290(2), 629-634. Academic Press Inc.
Peroxisomes play an indispensable role in cellular fatty acid oxidation in higher eukaryotes by catalyzing the chain shortening of a distinct set of fatty acids and fatty acid derivatives including pristanic acid (2,6,10,14-tetramethylpentadecanoic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85b6cf09980b45e22d2589a51e2b6e09
https://pure.amc.nl/en/publications/demonstration-of-dimethylnonanoylcoa-thioesterase-activity-in-rat-liver-peroxisomes-followed-by-purification-and-molecular-cloning-of-the-thioesterase-involved(7529c740-dd69-4347-a946-62fabb057362).html
https://pure.amc.nl/en/publications/demonstration-of-dimethylnonanoylcoa-thioesterase-activity-in-rat-liver-peroxisomes-followed-by-purification-and-molecular-cloning-of-the-thioesterase-involved(7529c740-dd69-4347-a946-62fabb057362).html
Autor:
MJ Zweens, J. M. Saudubray, Frank Roels, Stanislas Lyonnet, Jjj Waelkens, Rja Wanders, B. T. Poll-The, Dirk De Craemer, Rbh Schutgens
Publikováno v:
Virchows Archiv A Pathological Anatomy and Histopathology. 419:523-525
We report very large hepatic peroxisomes (d-circle greater than 1 micron) in a patient with rhizomelic chondrodysplasia punctata and a patient with acyl-CoA oxidase deficiency. The effects of peroxisomal enlargement on the enzymatic activity are disc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d5c64477a83606cb17c9b119e82898
https://doi.org/10.1007/bf01650683
https://doi.org/10.1007/bf01650683