Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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11 |
Material Type: Capítulo de Livro
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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-UpHuffnagel, Irene C. ; Redeker, Egbert J. W. ; Reneman, Liesbeth ; Vaz, Frédéric M. ; Ferdinandusse, Sacha ; Poll-The, Bwee TienJIMD Reports, Volume 39, 2018, Vol.39, p.83-87 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
12 |
Material Type: Capítulo de Livro
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Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanismsdu Moulin, Marcel ; Thies, Bastian ; Blohm, Martin ; Oh, Jun ; Kemper, Markus J. ; Santer, René ; Mühlhausen, ChrisJIMD Reports, Volume 39, 2018, Vol.39, p.25-30 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
13 |
Material Type: Capítulo de Livro
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First Successful Conception Induced by a Male Cystinosis PatientVeys, Koenraad R. ; D’Hauwers, Kathleen W. ; van Dongen, Angelique J. C. M. ; Janssen, Mirian C. ; Besouw, Martine T. P. ; Goossens, Ellen ; van den Heuvel, Lambert P. ; Wetzels, Alex A. M. M. ; Levtchenko, Elena N.JIMD Reports, Volume 38, 2018, Vol.38, p.1-6 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
14 |
Material Type: Capítulo de Livro
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Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot StudyBittel, Adam J. ; Bohnert, Kathryn L. ; Reeds, Dominic N. ; Peterson, Linda R. ; de las Fuentes, Lisa ; Corti, Manuela ; Taylor, Carolyn L. ; Byrne, Barry J. ; Cade, W. ToddJIMD Reports, Volume 41, 2018, Vol.41, p.63-72 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
15 |
Material Type: Capítulo de Livro
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Mutations in GMPPB Presenting with Pseudometabolic MyopathyPanicucci, Chiara ; Fiorillo, Chiara ; Moro, Francesca ; Astrea, Guja ; Brisca, Giacomo ; Trucco, Federica ; Pedemonte, Marina ; Lanteri, Paola ; Sciarretta, Lucia ; Minetti, Carlo ; Santorelli, Filippo M. ; Bruno, ClaudioJIMD Reports, Volume 38, 2018, Vol.38, p.23-31 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
16 |
Material Type: Capítulo de Livro
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Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBCWalker, Helen ; Pitkanen, Mervi ; Rahman, Yusof ; Barrington, Sally F.JIMD Reports, Volume 40, 2018, Vol.40, p.97-103 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
17 |
Material Type: Capítulo de Livro
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Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent SymptomsMarsden, Joanne T. ; Guppy, Simon ; Stein, Penelope ; Cox, Timothy M. ; Badminton, Michael ; Gardiner, Tricia ; Barth, Julian H. ; Stewart, M. Felicity ; Rees, David C.JIMD Reports, Volume 22, 2015, Vol.22, p.57-65 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
18 |
Material Type: Capítulo de Livro
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Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical SuspicionWhite, Andrew ; C. Tchan, MichelJIMD Reports, Volume 40, 2018, Vol.40, p.7-9 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
19 |
Material Type: Capítulo de Livro
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ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene MutationGalama, Wienke H. ; Verhaagen – van den Akker, Sandra L. J. ; Lefeber, Dirk J. ; Feenstra, Ilse ; Verrips, AadJIMD Reports, Volume 40, 2018, Vol.40, p.11-16 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
20 |
Material Type: Capítulo de Livro
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Treatment of Depression in Adults with Fabry DiseaseAli, Nadia ; Gillespie, Scott ; Laney, DawnJIMD Reports, Volume 38, 2018, Vol.38, p.13-21 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |