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11
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms
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Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

Marsden, Joanne T. ; Guppy, Simon ; Stein, Penelope ; Cox, Timothy M. ; Badminton, Michael ; Gardiner, Tricia ; Barth, Julian H. ; Stewart, M. Felicity ; Rees, David C. Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 22, 2015, Vol.22, p.57-65 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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12
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up
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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

Huffnagel, Irene C. ; Redeker, Egbert J. W. ; Reneman, Liesbeth ; Vaz, Frédéric M. ; Ferdinandusse, Sacha ; Poll-The, Bwee Tien Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, Shamima

JIMD Reports, Volume 39, 2018, Vol.39, p.83-87 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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13
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion
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Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion

White, Andrew ; C. Tchan, Michel Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.7-9 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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14
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
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Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

du Moulin, Marcel ; Thies, Bastian ; Blohm, Martin ; Oh, Jun ; Kemper, Markus J. ; Santer, René ; Mühlhausen, Chris Peters, Verena ; Baumgartner, Matthias ; Patterson, Marc ; Morava, Eva ; Zschocke, Johannes ; Rahman, Shamima

JIMD Reports, Volume 39, 2018, Vol.39, p.25-30 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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15
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
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Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study

Bittel, 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. Todd Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 41, 2018, Vol.41, p.63-72 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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16
First Successful Conception Induced by a Male Cystinosis Patient
First Successful Conception Induced by a Male Cystinosis Patient
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First Successful Conception Induced by a Male Cystinosis Patient

Veys, 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. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 38, 2018, Vol.38, p.1-6 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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17
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 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]

Berlin, Heidelberg: Springer Berlin Heidelberg

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18
Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC
Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC
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Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC

Walker, Helen ; Pitkanen, Mervi ; Rahman, Yusof ; Barrington, Sally F. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.97-103 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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19
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
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ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation

Galama, Wienke H. ; Verhaagen – van den Akker, Sandra L. J. ; Lefeber, Dirk J. ; Feenstra, Ilse ; Verrips, Aad Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 40, 2018, Vol.40, p.11-16 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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20
Treatment of Depression in Adults with Fabry Disease
Treatment of Depression in Adults with Fabry Disease
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Treatment of Depression in Adults with Fabry Disease

Ali, Nadia ; Gillespie, Scott ; Laney, Dawn Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 38, 2018, Vol.38, p.13-21 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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