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Number of items: 7.

Laemmle, Alexander; Stricker, Tamar; Häberle, Johannes (2017). Switch from sodium phenylbutyrate to glycerol phenylbutyrate improved metabolic stability in an adolescent with ornithine transcarbamylase deficiency. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 31. Berlin, Heidelberg: Springer, 11-14.

Khatami, Shohreh; Dehnabeh, Soghra Rouhi; Zeinali, Sirous; Thöny, Beat; Alaei, Mohammadreza; Salehpour, Shadab; Setoodeh, Aria; Rohani, Farzaneh; Hajivalizadeh, Fatemeh; Samavat, Ashraf (2017). Four years of diagnostic challenges with tetrahydrobiopterin deficiencies in Iranian patients. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 32. Berlin, Heidelberg: Springer, 1-8.

Zeltner, Nina A; Landolt, Markus A; Baumgartner, Matthias R; Lageder, Sarah; Quitmann, Julia; Sommer, Rachel; Karall, Daniela; Mühlhausen, Chris; Schlune, Andrea; Scholl-Bürgi, Sabine; Huemer, Martina (2017). Living with intoxication-type inborn errors of metabolism: a qualitative analysis of interviews with paediatric patients and their parents. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 31. Berlin, Heidelberg: Springer, 1-9.

Lauber, Matthias; Plecko, Barbara; Pfiffner, Miriam; Nuoffer, Jean-Marc; Häberle, Johannes (2017). The effect of S-adenosylmethionine on self-mutilation in a patient with Lesch-Nyhan disease. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 32. Berlin, Heidelberg: Springer, 51-57.

Roder, C; Peters, V; Kasuya, H; Nishizawa, T; Wakita, S; Berg, D; Schulte, C; Khan, N; Tatagiba, M; Krischek, B (2011). Analysis of ACTA2 in European Moyamoya disease patients. European Journal of Paediatric Neurology, 15(2):117-122.

Roder, C; Peters, V; Kasuya, H; Nishizawa, T; Takehara, Y; Berg, D; Schulte, C; Khan, N; Tatagiba, M; Krischek, B (2011). Common genetic polymorphisms in moyamoya and atherosclerotic disease in Europeans. Child's Nervous System, 27(2):245-252.

Roder, C; Peters, V; Kasuya, H; Nishizawa, T; Takehara, Y; Berg, D; Schulte, C; Khan, N; Tatagiba, M; Krischek, B (2010). Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients. Acta Neurochirurgica, 152(12):2153-2160.

This list was generated on Mon Sep 24 01:48:53 2018 CEST.