Transitionsmedizin in den Niederlanden

Autor: Hollak, C. E. M., van Spronsen, F. J., vom Dahl, S., Lammert, F., Ullrich, K., Wendel, U.

Publikováno v: Angeborene Stoffwechselkrankheiten bei Erwachsenen, 47-53
STARTPAGE=47;ENDPAGE=53;TITLE=Angeborene Stoffwechselkrankheiten bei Erwachsenen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::60d1de5a28aea7c5ea36786594be9913
https://pure.amc.nl/en/publications/transitionsmedizin-in-den-niederlanden(dec4755c-2606-4274-892c-4a49a08b34e1).html

Dosierung der Enzymersatztherapie bei Morbus Gaucher

Autor: vom Dahl, S., Hollak, C., Rolfs, A., Poll, L., de Fost, M., Brill, N., Häussinger, D., Wendel, U., Strohmeyer, G.

Publikováno v: Genetische bedingte Stoffwechselerkrankungen. Behandlung, Kosten, sozial-medizinische Aspekte, 39-50
STARTPAGE=39;ENDPAGE=50;TITLE=Genetische bedingte Stoffwechselerkrankungen. Behandlung, Kosten, sozial-medizinische Aspekte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::b3a3c52f75cc0ad690505d1a340357e3
https://pure.amc.nl/en/publications/dosierung-der-enzymersatztherapie-bei-morbus-gaucher(f8420406-c1a9-4c21-bc47-51d7b0229696).html

Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I)

Autor: Smit, Jan Peter Rake Æ Gepke Visser Æ Philippe Labrune James V. Leonard Æ Kurt Ullrich Æ G. Peter A., Members ofthe ESGSD I are: Austria (W Endres, ESGSD I., Skladal, D, Innsbruck), Belgium (E Sokal, Brussels), Czech Republic (J Zeman, Prague), France (P Labrune, Clamart), Germany (P Bu¨ hrdel, Leipzig, K Ullrich, Hamburg, G Da¨ ublin, Wendel, U, Du¨, sseldorf), Great Britain (P Lee, Leonard, Jv, Mieli-Vergani, G, London), Hungary (L Szo¨ nyi, Budapest), Italy (P Gandullia, Gatti, R, M di Rocco, Genoa, Melis, D, Andria, G, Naples), Israel (S Moses, Beersheva), Poland (J Taybert, Pronicka, E, Warsaw), The Netherlands (JP Rake, Gpa, Smit, Visser, G, Groningen), Turkey (H O¨ zen, N Kocak, Ankara)

Publikováno v: European Journal of Pediatrics, 161, S112-S119. SPRINGER

Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03b095304044655bca346469dd509436
http://hdl.handle.net/11386/4729942

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots

Autor: Spiekerkotter, U., Schwahn, B., Korall, H., Trefz, F.K., Andresen, B.S., Wendel, U.

Publikováno v: Spiekerkotter, U, Schwahn, B, Korall, H, Trefz, F K, Andresen, B S & Wendel, U 2000, ' Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots ' Acta Paediatr., nr. 89, s. 492-495 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::21349cc1170c7d61412d03d96858287c
https://pure.au.dk/portal/da/publications/verylongchain-acylcoenzyme-a-dehydrogenase-vlcad-deficiency-monitoring-of-treatment-by-carnitineacylcarnitine-analysis-in-blood-spots(748351d0-f7b7-11da-bee9-02004c4f4f50).html

Ahornsirupkrankheit (MSUD).

Autor: Wendel, U., Donner, M.

Publikováno v: Angeborene Stoffwechselkrankheiten bei Erwachsenen; 2014, p141-148, 8p