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Material Type: Capítulo de Livro
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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene MutationsAngelini, Corrado ; Tavian, Daniela ; Missaglia, SaraJIMD Reports, Volume 38, 2018, Vol.38, p.33-40 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed PatientsVals, Mari-Anne ; Pajusalu, Sander ; Kals, Mart ; Mägi, Reedik ; Õunap, KatrinJIMD Reports, Volume 39, 2018, Vol.39, p.13-17 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Mortality in Patients with Morquio Syndrome ALavery, Christine ; Hendriksz, ChrisJIMD Reports, Volume 15, 2015, Vol.15, p.59-66 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking AheadPyhtila, Brook M. ; Shaw, Kelly A. ; Neumann, Samantha E. ; Fridovich-Keil, Judith L.JIMD Reports, Volume 15, 2015, Vol.15, p.79-93 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic ReviewMedford, Emma ; Hare, Dougal Julian ; Wittkowski, AnjaJIMD Reports, Volume 39, 2018, Vol.39, p.107-116 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in TaiwanHwu, Wuh-Liang ; Chien, Yin-Hsiu ; Lee, Ni-Chung ; Li, Mei-HsinJIMD Reports, Volume 40, 2018, Vol.40, p.1-6 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) DeficiencyAttri, Savita Verma ; Singhi, Pratibha ; Wiwattanadittakul, Natrujee ; Goswami, Jyotindra N. ; Sankhyan, Naveen ; Salomons, Gajja S. ; Roullett, Jean-Baptiste ; Hodgeman, Ryan ; Parviz, Mahsa ; Gibson, K. Michael ; Pearl, Phillip L.JIMD Reports, Volume 34, 2017, Vol.34, p.111-115 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Capítulo de Livro
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Newborn Screening for Vitamin B 6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyOkun, Jürgen G ; Gan-Schreier, Hongying ; Ben-Omran, Tawfeq ; Schmidt, Kathrin V ; Fang-Hoffmann, Junmin ; Gramer, Gwendolyn ; Abdoh, Ghassan ; Shahbeck, Noora ; Al Rifai, Hilal ; Al Khal, Abdul Latif ; Haege, Gisela ; Chiang, Chuan-Chi ; Kasper, David C ; Wilcken, Bridget ; Burgard, Peter ; Hoffmann, Georg FJIMD reports, 2017, Vol.32, p.87 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Capítulo de Livro
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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureRiley, Lisa G. ; Rudinger-Thirion, Joëlle ; Schmitz-Abe, Klaus ; Thorburn, David R. ; Davis, Ryan L. ; Teo, Juliana ; Arbuckle, Susan ; Cooper, Sandra T. ; Campagna, Dean R. ; Frugier, Magali ; Markianos, Kyriacos ; Sue, Carolyn M. ; Fleming, Mark D. ; Christodoulou, JohnJIMD Reports, Volume 28, 2016, Vol.28, p.49-57 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
10 |
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 |