Zobrazeno 1 - 10
of 24
pro vyhledávání: '"van FrancJan Spronsen"'
Autor:
François Feillet, M. van Rijn, Maria Gizewska, van FrancJan Spronsen, Allan M. Lund, Annet M. Bosch, Laurie Bernstein, A. MacDonald
Publikováno v:
Annals of nutrition & metabolism, 61(4), 289-295. S. Karger AG
Annals of nutrition and metabolism, 61(4), 289-295. KARGER
Annals of nutrition and metabolism, 61(4), 289-295. KARGER
Common inborn errors of metabolism treated by low natural protein diets [amino acid (AA) disorders, organic acidemias and urea cycle disorders] are responsible for a collection of diverse clinical symptoms, each condition presenting at different ages
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251c062ad4090c2e3faea1b7be7ad3c8
https://doi.org/10.1159/000342256
https://doi.org/10.1159/000342256
Autor:
Paul E. Sijens, Matthijs Oudkerk, Jan Hendrik Potze, van FrancJan Spronsen, Maartje Boon, Henriëtte E. Westerlaan, Roelineke J. Lunsing, de Jan Groot
Publikováno v:
Molecular Genetics and Metabolism, 98(4), 367-371. ACADEMIC PRESS INC ELSEVIER SCIENCE
Diffusion tensor imaging (DTI) is reported for the first time in a patient with Sjogren-Larsson syndrome, an autosomal recessive neurocutaneous disorder. Magnetic resonance spectroscopy (MRS) revealed normal levels of choline, creatine and N-acetyl a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3d18050f6af97735bcbaa5b14c445de
https://doi.org/10.1016/j.ymgme.2009.07.009
https://doi.org/10.1016/j.ymgme.2009.07.009
Publikováno v:
Early Human Development, 85(7), 461-465. ELSEVIER IRELAND LTD
Background: Predicting later outcome in neonates presenting with severe inborn errors of metabolism (IEM) is difficult. The assessment of the early motor repertoire is a reliable method of evaluating the integrity of the central nervous system in you
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcfc2ad4e1a5d1117aa0631c63a64718
https://research.rug.nl/en/publications/b8c6656e-e681-4426-addd-e9288dd58cd7
https://research.rug.nl/en/publications/b8c6656e-e681-4426-addd-e9288dd58cd7
Autor:
van FrancJan Spronsen, Peter Burgard
Publikováno v:
Journal of Inherited Metabolic Disease. 31:673-679
In recent years, an increasing number of national guidelines on the treatment of phenylketonuria (PKU) have emerged. Most of these guidelines are dedicated to the care of children, while less attention is paid to the care of adults, although all guid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3296fe887f3b0e36d682c570ca37324b
https://doi.org/10.1007/s10545-008-0918-6
https://doi.org/10.1007/s10545-008-0918-6
Autor:
Roelineke J. Lunsing, Lars A. Rodiger, van FrancJan Spronsen, Richard J. Rodenburg, Matthijs Oudkerk, Paul E. Sijens, Gerrit Smit
Publikováno v:
Brain & Development, 30, 9, pp. 579-83
Brain & Development, 30(9), 579-583. Elsevier
Brain & Development, 30, 579-83
Brain & Development, 30(9), 579-583. Elsevier
Brain & Development, 30, 579-83
Contains fulltext : 69088.pdf (Publisher’s version ) (Closed access) Brain magnetic resonance spectroscopy in two patients with Leigh syndrome revealed the presence of lactate in gray and white matter brain tissue and relatively high choline levels
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43294983402d87188efe0f9b99efa84
https://hdl.handle.net/2066/69088
https://hdl.handle.net/2066/69088
Autor:
O. P. van Diggelen, den Wilfred Dunnen, Marieke Hoeksma, van FrancJan Spronsen, Klaziena Niezen-Koning
Publikováno v:
Molecular Genetics and Metabolism, 91(4), 370-373. Academic Press
Molecular Genetics and Metabolism, 91(4), 370-373. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 91(4), 370-373. ACADEMIC PRESS INC ELSEVIER SCIENCE
Histopathological findings of muscle biopsies from five patients with two different muscular glycogen storage diseases (mGSD) were presented. From these investigations it emerged that the yield of histopathology in mGSD is low. In only one of five pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d383bd7e7a0ba1bfbffbdde487e19dd2
https://hdl.handle.net/1765/36615
https://hdl.handle.net/1765/36615
Publikováno v:
Molecular Genetics and Metabolism, 88(3), 285-289. ACADEMIC PRESS INC ELSEVIER SCIENCE
MR spectroscopy in two patients with glutaric aciduria type I revealed reductions in the white matter N-acetylaspartate signal, in the more severe case accompanied by a loss of glutamate and the appearance of lactate signals. (c) 2006 Elsevier Inc. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcc418574fe3b5a9a272cdb67f2d15f1
https://doi.org/10.1016/j.ymgme.2006.01.001
https://doi.org/10.1016/j.ymgme.2006.01.001
Autor:
Albertus Timmer, Johannes Erwich, J van der Meer, MJ Leistra-Leistra, WB Geven, van FrancJan Spronsen
Publikováno v:
Placenta, 25, S102-S105. W B SAUNDERS CO LTD
Objective: Fetal thrombotic vasculopathy (FTV) has been related to pregnancy complications and neonatal thrombosis separately. We assessed whether a relationship existed in our population of women with neonates who were admitted to our Neonatal Inten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0356b3f67270e1d3683ac6004414350
https://research.rug.nl/en/publications/e44a5c4f-e937-4054-9fd4-afa13a9b2a06
https://research.rug.nl/en/publications/e44a5c4f-e937-4054-9fd4-afa13a9b2a06
Autor:
Jan Peter Rake, Joachim J. Schweizer, Dirk Reijngoud, Mjh Slooff, van FrancJan Spronsen, de Koert Jong, Cma Bijleveld, Gepke Visser, Gerrit Smit, Klaziena Niezen-Koning, Pmjg Peeters, Wim Ruitenbeek
Publikováno v:
European Journal of Pediatrics, 159, 523-526
European Journal of Pediatrics, 159, pp. 523-526
European Journal of Pediatrics, 159, pp. 523-526
The prerequisite for liver transplantation as a therapeutic option for inherited metabolic diseases should be that the enzyme defect, being responsible for the major clinical (hepatic and/or extra-hepatic) abnormalities, is localised in the liver. Fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b3dfa373eca04269a8f58850c1b47de
https://hdl.handle.net/2066/184468
https://hdl.handle.net/2066/184468
Autor:
Albertus Timmer, van FrancJan Spronsen, Klaziena Niezen-Koning, W. B. Geven, A.J. van Loon, R. J. A. Wanders
Publikováno v:
BJOG-an International Journal Of Obstetrics And Gynaecology, 114(8), 1028-1030. Wiley
BJOG, 114(8), 1028-1030. Wiley-Blackwell
BJOG, 114(8), 1028-1030. Wiley-Blackwell
WB Geven,a KE Niezen-Koning,b A Timmer,c AJ van Loon,d RJA Wanders,e FJ van Spronsenf a Department of Pediatrics, Martini Hospital, Groningen, the Netherlands b Laboratory for Metabolic Diseases and cDepartment of Pathology, University Medical Center
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c3661813a19b229afd0c21f43449a14
https://doi.org/10.1111/j.1471-0528.2007.01411.x
https://doi.org/10.1111/j.1471-0528.2007.01411.x