Zobrazeno 1 - 10
of 276
pro vyhledávání: '"van Spronsen, FJ."'
Autor:
O’Sullivan, F., Tomazos, I., van Spronsen, FJ., Szabo, S.M.., Venkataraman, M., Huria, L., Smith, N., Molony, L., Ingalls, K., Somera-Molina, K.., Harding, C.O..
Publikováno v:
In Value in Health June 2024 27(6) Supplement:S51-S52
Autor:
Demirdas, S, van Kessel, IN, Korndewal, MJ, Meutgeert, H, Klaren, H, van Rijn, M, van Spronsen, FJ, Bosch, AM, Morava, Eva, Dutch Working Group
ispartof: Orphanet Journal of Rare Diseases vol:25 issue:8 pages:37-37 status: published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1131::70d8ddcc146bd5bcd3134f37d05d161a
https://lirias.kuleuven.be/handle/123456789/542671
https://lirias.kuleuven.be/handle/123456789/542671
Autor:
Jahja, R, Huijbregts, SCJ, de Sonneville, LMJ, van der Meere, JJ, Bosch, AM, Hollak, CEM, Rubio-Gozalbo, ME, Brouwers, MCGJ, Hofstede, F, Vries, M, Janssen, MCH, van der Ploeg, Ans, Langendonk, Janneke, van Spronsen, FJ
Publikováno v:
Molecular Genetics and Metabolism, 110, S57-S61. Academic Press
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::95b5e68e1fa8dd10a3679e29f8b59c1f
https://pure.eur.nl/en/publications/fb61ba54-cb04-4cc6-b311-cbaedb3d0df1
https://pure.eur.nl/en/publications/fb61ba54-cb04-4cc6-b311-cbaedb3d0df1
Publikováno v:
Tijdschrift voor Kindergeneeskunde, 78(2), 57-62. Bohn Stafleu van Loghum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::a33e4ea3795cbe4006fbbdf73c1c23a5
https://pure.eur.nl/en/publications/22bb09d4-9309-45dc-bf62-64262d36bd6e
https://pure.eur.nl/en/publications/22bb09d4-9309-45dc-bf62-64262d36bd6e
Publikováno v:
Molecular Genetics and Metabolism, 86(3), 421-422. ACADEMIC PRESS INC ELSEVIER SCIENCE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::95069997b2c421bddf3358040d244ede
https://research.rug.nl/en/publications/0303b0cb-743c-4b82-acab-00a380277593
https://research.rug.nl/en/publications/0303b0cb-743c-4b82-acab-00a380277593
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition, 40(1), 90-93. Lippincott Williams and Wilkins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::98eae026ac487e5e1b8d816875aa4215
https://research.rug.nl/en/publications/1d7be244-ce47-4a8e-9e85-245824c70c13
https://research.rug.nl/en/publications/1d7be244-ce47-4a8e-9e85-245824c70c13
Autor:
Rijlaarsdam, RS, van Spronsen, FJ, Bink-Boelkens, MTE, Reijngoud, DJ, Niezen-Koning, KE, Van der Sluijs, FH, Dorland, B, Beaufort-Krol, GCM
Publikováno v:
Pace-Pacing and Clinical Electrophysiology, 27(5), 675-676. Wiley
This case report describes ventricular fibrillation without overt cardiomyopathy us the presenting symptom of primary carnitine deficiency due to organic cation transporter 2 (OCTN2)-deficiency in a 15-year-old girl. Normally this disease presents ea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::e8d53ff64e7cc2c00cb5b103f763d81a
https://research.rug.nl/en/publications/24f5e19e-967f-48d9-90b3-58e2685bbaef
https://research.rug.nl/en/publications/24f5e19e-967f-48d9-90b3-58e2685bbaef
Autor:
Stemerdink, BA, Kalverboer, AF, van der Meere, JJ, de Jong, LWA, Slijper, FME, Verkerk, PH, van Spronsen, FJ
Publikováno v:
Journal of Inherited Metabolic Disease, 23(6), 548-562. SPRINGER
Thirty patients with early and continuously treated phenylketonuria (PKU) between 8 and 20 years of age were compared with 30 controls, matched individually for age, sex, and educational level of both parents, on behaviour rating scales for parents a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::127cbd683590b097cee60986cf310745
https://research.rug.nl/en/publications/f5b16ce1-1be4-4278-8af6-025941a6f99f
https://research.rug.nl/en/publications/f5b16ce1-1be4-4278-8af6-025941a6f99f
Autor:
Rake, JP, van Spronsen, FJ, Visser, G, Ruitenbeek, W, Schweizer, JJ, Bijleveld, CMA, Peeters, PMJG, de Jong, KP, Slooff, MJH, Reijngoud, DJ, Niezen-Koning, KE, Smit, GPA
Publikováno v:
European Journal of Pediatrics, 159(7), 523-526. SPRINGER
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=narcis______::886b9130a1b29000f80ed904ecea051a
https://research.rug.nl/en/publications/fa7683ce-d3ee-4087-813c-5e1543f25e93
https://research.rug.nl/en/publications/fa7683ce-d3ee-4087-813c-5e1543f25e93