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1 |
Material Type: Capítulo de Livro
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Erratum: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II DeficiencyMorava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, VerenaJIMD Reports, Volume 33, 2017, Vol.33, p.109-110 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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2 |
Material Type: Capítulo de Livro
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Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter DeficiencyMorava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, VerenaJIMD Reports, Volume 31, 2017, Vol.31, p.113-113 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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3 |
Material Type: Capítulo de Livro
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Mortality in Patients with Morquio Syndrome AZschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, VerenaJIMD Reports, Volume 15, 2015, Vol.15, p.59-66 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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4 |
Material Type: Capítulo de Livro
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Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking AheadZschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, VerenaJIMD Reports, Volume 15, 2015, Vol.15, p.79-93 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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5 |
Material Type: Capítulo de Livro
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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) DeficiencyMorava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, VerenaJIMD Reports, Volume 34, 2017, Vol.34, p.111-115 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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6 |
Material Type: Capítulo de Livro
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Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the LiteratureZschocke, Johannes ; Baumgartner, Matthias ; Morava, Eva ; Patterson, Marc ; Rahman, Shamima ; Peters, VerenaJIMD Reports, Volume 19, 2015, Vol.19, p.123-123 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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7 |
Material Type: Capítulo de Livro
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Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian PatientsZschocke, Johannes ; Baumgartner, Matthias ; Morava, Eva ; Patterson, Marc ; Rahman, Shamima ; Peters, VerenaJIMD Reports, Volume 21, 2015, Vol.21, p.129-129 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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8 |
Material Type: Capítulo de Livro
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Innate and Adaptive Immune Response in Fabry DiseaseZschocke, Johannes ; Baumgartner, Matthias ; Morava, Eva ; Patterson, Marc ; Rahman, Shamima ; Peters, VerenaJIMD Reports, Volume 22, 2015, Vol.22, p.1-10 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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9 |
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 SymptomsZschocke, Johannes ; Baumgartner, Matthias ; Morava, Eva ; Patterson, Marc ; Rahman, Shamima ; Peters, VerenaJIMD Reports, Volume 22, 2015, Vol.22, p.57-65 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |
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10 |
Material Type: Capítulo de Livro
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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureMorava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, VerenaJIMD Reports, Volume 28, 2016, Vol.28, p.49-57 [Periódico revisado por pares]Germany: Springer Berlin / HeidelbergTexto completo disponível |