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Number of items: 5.

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.

Wolf, N I; Rahman, S; Schmitt, B; Taanman, J W; Duncan, A J; Harting, I; Wohlrab, G; Ebinger, F; Rating, D; Bast, T (2009). Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia, 50(6):1596-1607.

This list was generated on Sun May 27 08:21:10 2018 CEST.