Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Capítulo de Livro
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Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH4)Thiele, A. G. ; Weigel, J. F. ; Ziesch, B. ; Rohde, C. ; Mütze, U. ; Ceglarek, U. ; Thiery, J. ; Müller, A. S. ; Kiess, W. ; Beblo, S.JIMD Reports – Case and Research Reports, 2012/6, 2013, Vol.9, p.31-40 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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2 |
Material Type: Capítulo de Livro
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DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype ExpansionBursle, C. ; Brown, D. ; Cardinal, J. ; Connor, F. ; Calvert, S. ; Coman, D.JIMD Reports, Volume 34, 2017, Vol.34, p.27-32 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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3 |
Material Type: Capítulo de Livro
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Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase DeficiencyBala, P. ; Ferdinandusse, S. ; Olpin, S. E. ; Chetcuti, P. ; Morris, A. A. M.JIMD Reports, Volume 27, 2016, Vol.27, p.11-15 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |