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Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment
Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment
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Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

Waters, Paula J. ; Kitzler, Thomas M. ; Feigenbaum, Annette ; Geraghty, Michael T. ; Al-Dirbashi, Osama ; Bherer, Patrick ; Auray-Blais, Christiane ; Gravel, Serge ; McIntosh, Nathan ; Siriwardena, Komudi ; Trakadis, Yannis ; Brunel-Guitton, Catherine ; Al-Hertani, Walla Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, Shamima

JIMD Reports, Volume 39, 2018, Vol.39, p.89-96 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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2
Glutaric Acidemia Type 1: A Case of Infantile Stroke
Glutaric Acidemia Type 1: A Case of Infantile Stroke
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Glutaric Acidemia Type 1: A Case of Infantile Stroke

Kaya Ozcora, Gül Demet ; Gokay, Songul ; Canpolat, Mehmet ; Kardaş, Fatih ; Kendirci, Mustafa ; Kumandaş, Sefer Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 38, 2018, Vol.38, p.7-12 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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3
Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood
Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood
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Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

Patel, Bimal ; Pendyal, Surekha ; Kishnani, Priya S. ; McDonald, Marie ; Bailey, Lauren Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.85-90 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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4
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
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Mutations in GMPPB Presenting with Pseudometabolic Myopathy

Panicucci, Chiara ; Fiorillo, Chiara ; Moro, Francesca ; Astrea, Guja ; Brisca, Giacomo ; Trucco, Federica ; Pedemonte, Marina ; Lanteri, Paola ; Sciarretta, Lucia ; Minetti, Carlo ; Santorelli, Filippo M. ; Bruno, Claudio Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 38, 2018, Vol.38, p.23-31 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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5
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers
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Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers

Castro-Ferreira, I. ; Carmo, Rute ; Silva, Sérgio Estrela ; Corrêa, Otília ; Fernandes, Susana ; Sampaio, Susana ; Pedro, Rodrigues-Pereira ; Praça, Augusta ; Oliveira, João Paulo Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.55-62 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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6
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet
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Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet

Ryder, B. ; Moore, F. ; Mitchell, A. ; Thompson, S. ; Christodoulou, J. ; Balasubramaniam, S. Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.77-83 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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7
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
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Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease

Stepien, Karolina M. ; Lum, Su Han ; Wraith, J. Edmond ; Hendriksz, Christian J. ; Church, Heather J. ; Priestman, David ; Platt, Frances M. ; Jones, Simon ; Jovanovic, Ana ; Wynn, Robert Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 41, 2018, Vol.41, p.17-23 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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8
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals
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Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

Wojcik, Monica H. ; Wierenga, Klaas J. ; Rodan, Lance H. ; Sahai, Inderneel ; Ferdinandusse, Sacha ; Genetti, Casie A. ; Towne, Meghan C. ; Peake, Roy W. A. ; James, Philip M. ; Beggs, Alan H. ; Brownstein, Catherine A. ; Berry, Gerard T. ; Agrawal, Pankaj B. Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, Shamima

JIMD Reports, Volume 39, 2018, Vol.39, p.45-54 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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9
Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan
Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan
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Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan

Hwu, Wuh-Liang ; Chien, Yin-Hsiu ; Lee, Ni-Chung ; Li, Mei-Hsin Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.1-6 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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10
Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases
Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases
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Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

Manea, Emanuela ; Gissen, Paul ; Pope, Simon ; Heales, Simon J. ; Batzios, Spyros Morava, Eva ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Rahman, Shamima ; Patterson, Marc ; Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, Shamima

JIMD Reports, Volume 39, 2018, Vol.39, p.7-12 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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