Zobrazeno 1 - 10
of 196
pro vyhledávání: '"Leo A H, Monnens"'
Autor:
Carl Spiessens, Anna Taranta, Maarten Albersen, Laura Rita Rega, Robert Hamer, Liesbeth De Wever, Alex M.M. Wetzels, K.W.M. D'Hauwers, Prashant Kadam, Martine Besouw, Elena Levtchenko, Chelsea Camps, Ahmed Reda, Bianca Maria Goffredo, Mirian C. H. Janssen, Leo A. H. Monnens, Koenraad Veys, Daniel G. Cyr, Lambertus P. van den Heuvel, Ellen Goossens
Publikováno v:
Journal of Inherited Metabolic Disease, 44, 1393-1408
Journal of Inherited Metabolic Disease, 44(6), 1393-1408. SPRINGER
Journal of Inherited Metabolic Disease, 44, 6, pp. 1393-1408
Journal of Inherited Metabolic Disease, 44(6), 1393-1408. SPRINGER
Journal of Inherited Metabolic Disease, 44, 6, pp. 1393-1408
Cystinosis is an inherited metabolic disorder caused by recessive mutations in the CTNS gene. The disease primarily affects the kidneys followed by extra-renal organ involvement later in life. Azoospermia is one of the unclarified complications which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d16ab0add37f35b40563562e04b9179
https://lirias.kuleuven.be/handle/20.500.12942/687166
https://lirias.kuleuven.be/handle/20.500.12942/687166
Autor:
Ido P. Kema, Leo A. H. Monnens, Marcel M. Verbeek, Mirjam E. van Albada, Ton H. van den Meiracker, Tessa Wassenberg, Jorie Versmissen, Erik-Jan Kamsteeg, Michèl A.A.P. Willemsen, Jaap Deinum, Jacques W.M. Lenders, Maartje Pennings, Frans J. van Ittersum, Ron A. Wevers
Publikováno v:
Journal of Inherited Metabolic Disease, 44, 554-565
Wassenberg, T, Deinum, J, van Ittersum, F J, Kamsteeg, E-J, Pennings, M, Verbeek, M M, Wevers, R A, van Albada, M E, Kema, I P, Versmissen, J, van den Meiracker, T, Lenders, J W M, Monnens, L & Willemsen, M A 2021, ' Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency ', Journal of Inherited Metabolic Disease, vol. 44, no. 3, pp. 554-565 . https://doi.org/10.1002/jimd.12321
Journal of Inherited Metabolic Disease, 44, 3, pp. 554-565
Journal of Inherited Metabolic Disease
Wassenberg, T, Deinum, J, van Ittersum, F J, Kamsteeg, E-J, Pennings, M, Verbeek, M M, Wevers, R A, van Albada, M E, Kema, I P, Versmissen, J, van den Meiracker, T, Lenders, J W M, Monnens, L & Willemsen, M A 2021, ' Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency ', Journal of Inherited Metabolic Disease, vol. 44, no. 3, pp. 554-565 . https://doi.org/10.1002/jimd.12321
Journal of Inherited Metabolic Disease, 44, 3, pp. 554-565
Journal of Inherited Metabolic Disease
Contains fulltext : 234019.pdf (Publisher’s version ) (Open Access) Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5b58907bc3077eda89a2ffb570682fa
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/234019
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/234019
Autor:
Leo A. H. Monnens
Publikováno v:
Acta Paediatrica, 110
Acta Paediatrica, 110, 5
Acta Paediatrica, 110, 5
Item does not contain fulltext
Publikováno v:
Pediatric Nephrology, 30, 1537-40
Pediatric Nephrology, 30, 9, pp. 1537-40
Pediatric Nephrology, 30, 9, pp. 1537-40
Contains fulltext : 154390.pdf (Publisher’s version ) (Closed access) BACKGROUND: The urinary concentrations of monosaccharides and polyols are used for diagnosing inborn errors of metabolism and renal tubular disorders. Reference values are age-re
Publikováno v:
Kindergeneeskunde voor kinderverpleegkundigen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a01fa6e72f05606e0f5ab4800aca2133
https://doi.org/10.1007/978-90-368-1851-3
https://doi.org/10.1007/978-90-368-1851-3
Publikováno v:
Clinical Science, 123, 1-14
Clinical Science, 123, 1, pp. 1-14
Clinical Science, 123, 1, pp. 1-14
Item does not contain fulltext Magnesium (Mg2+) balance is tightly regulated by the concerted actions of the intestine, bone and kidneys. This balance can be disturbed by a broad variety of drugs. Diuretics, modulators of the EGFR (epidermal growth f
Autor:
Leo A. H. Monnens, Tessa Wassenberg, Jaap Deinum, Henry B.P.M. Dijkman, Michèl A.A.P. Willemsen
Publikováno v:
Pediatric Nephrology, 32, 1169-1170
Pediatric Nephrology, 32, 7, pp. 1169-1170
Pediatric Nephrology (Berlin, Germany)
Pediatric Nephrology, 32, 7, pp. 1169-1170
Pediatric Nephrology (Berlin, Germany)
Contains fulltext : 174488.pdf (Publisher’s version ) (Open Access) 01 juli 2017
Autor:
Thea J A M van der Velden, Martijn J. Wilmer, Rosalinde Masereeuw, Elena Levtchenko, Leo A. H. Monnens, Leo A. J. Kluijtmans, Peter G. Scheffer, Lambertus P. van den Heuvel, Peter H.G.M. Willems
Publikováno v:
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 643-51
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812(6), 643-651. Elsevier
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease
Wilmer, M J, Kluijtmans, L A J, van der Velden, T J, Willems, P H, Scheffer, P G, Masereeuw, R, Monnens, L A, van den Heuvel, L P & Levtchenko, E N 2011, ' Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells ', Biochimica et Biophysica Acta. Molecular Basis of Disease, vol. 1812, no. 6, pp. 643-651 . https://doi.org/10.1016/j.bbadis.2011.02.010
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 643-51
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease; Vol 1812
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812(6), 643-651. Elsevier
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease
Wilmer, M J, Kluijtmans, L A J, van der Velden, T J, Willems, P H, Scheffer, P G, Masereeuw, R, Monnens, L A, van den Heuvel, L P & Levtchenko, E N 2011, ' Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells ', Biochimica et Biophysica Acta. Molecular Basis of Disease, vol. 1812, no. 6, pp. 643-651 . https://doi.org/10.1016/j.bbadis.2011.02.010
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 643-51
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease; Vol 1812
Contains fulltext : 95780.pdf (Publisher’s version ) (Closed access) Recent evidence implies that impaired metabolism of glutathione has a role in the pathogenesis of nephropathic cystinosis. This recessive inherited disorder is characterized by ly
Publikováno v:
American Journal of Transplantation, 11, 4, pp. 852-6
American Journal of Transplantation, 11, 852-6
ResearcherID
American Journal of Transplantation, 11, 852-6
ResearcherID
Item does not contain fulltext This is the first report that presents renal transplantation after bilateral nephrectomy as the final treatment for severe renovascular hypertension due to fibromuscular dysplasia (FMD). We describe the history of a 1-y
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome
Autor:
Stefanie Weber, Martin Konrad, Peter F. Hoyer, Leo A. H. Monnens, Friedhelm Hildebrandt, Bernd Dworniczak, Rainer Büscher, Petra Pennekamp, Eberhard Kuwertz-Bröking, Ulrike John, Anja Büscher, Markus J. Kemper, Anne-Margret Wingen, Birgitta Kranz
Publikováno v:
Clinical Journal of the American Society of Nephrology, 5, 11, pp. 2075-84
Clinical Journal of the American Society of Nephrology, 5, 2075-84
Clinical Journal of the American Society of Nephrology, 5, 2075-84
Item does not contain fulltext BACKGROUND AND OBJECTIVES: Mutations in podocyte genes are associated with steroid-resistant nephrotic syndrome (SRNS), mostly affecting younger age groups. To date, it is unclear whether these patients benefit from int