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| 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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Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase DeficiencyAbdelkreem, Elsayed ; Akella, Radha Rama Devi ; Dave, Usha ; Sane, Sudhir ; Otsuka, Hiroki ; Sasai, Hideo ; Aoyama, Yuka ; Nakama, Mina ; Ohnishi, Hidenori ; Mahmoud, Shaimaa ; Abd El Aal, Mohamed ; Fukao, Toshiyuki Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 35, 2017, Vol.35, p.59-65 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 2 |
Material Type: Capítulo de Livro
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Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine LevelAhrens-Nicklas, Rebecca C. ; Serdaroglu, Esra ; Muraresku, Colleen ; Ficicioglu, Can Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, ShamimaJIMD Reports, Volume 23, 2015, Vol.23, p.71-75 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 3 |
Material Type: Capítulo de Livro
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Lower Urinary Tract Symptoms and Incontinence in Children with Pompe DiseaseAjay, Divya ; McNamara, Erin R. ; Austin, Stephanie ; Wiener, John S. ; Kishnani, Priya Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 28, 2016, Vol.28, p.59-67 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 4 |
Material Type: Capítulo de Livro
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Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase DeficiencyAksglaede, Lise ; Christensen, Mette ; Olesen, Jess H. ; Duno, Morten ; Olsen, Rikke K. J. ; Andresen, Brage S. ; Hougaard, David M. ; Lund, Allan M. Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, ShamimaJIMD Reports, Volume 23, 2015, Vol.23, p.67-70 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 5 |
Material Type: Capítulo de Livro
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Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype SpectrumAlessandrì, Maria G. ; Casarano, Manuela ; Pezzini, Ilaria ; Doccini, Stefano ; Nesti, Claudia ; Cioni, Giovanni ; Battini, Roberta Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, EvaJIMD Reports Volume 16, 2014, Vol.16, p.81-87 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Psychological Health in Adults with Morquio SyndromeAli, Nadia ; Cagle, S. Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, ShamimaJIMD Reports, Volume 20, 2015, Vol.20, p.87-93 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 7 |
Material Type: Capítulo de Livro
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Treatment of Depression in Adults with Fabry DiseaseAli, Nadia ; Gillespie, Scott ; Laney, Dawn Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 38, 2018, Vol.38, p.13-21 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 8 |
Material Type: Capítulo de Livro
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Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type IIAlkhzouz, Camelia ; Lazea, Cecilia ; Bucerzan, Simona ; Nascu, Ioana ; Kiss, Eva ; Denes, Carmencita Lucia ; Grigorescu-Sido, Paula Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, ShamimaJIMD Reports, Volume 33, 2017, Vol.33, p.19-25 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 9 |
Material Type: Capítulo de Livro
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Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of HomocystinuriasAlodaib, Ahmad N. ; Carpenter, Kevin ; Wiley, Veronica ; Wotton, Tiffany ; Christodoulou, John ; Wilcken, BridgetJIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.1-6 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 10 |
Material Type: Capítulo de Livro
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Further Delineation of the ALG9-CDG PhenotypeAlSubhi, Sarah ; AlHashem, Amal ; AlAzami, Anas ; Tlili, Kalthoum ; AlShahwan, Saad ; Lefeber, Dirk ; Alkuraya, Fowzan S. ; Tabarki, Brahim Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 27, 2016, Vol.27, p.107-112 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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