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Refinado por: Base de dados/Biblioteca: EZB Electronic Journals Library remover Base de dados/Biblioteca: Journals@Ovid Full Text remover tipo de recurso: Book Chapters remover PubMed Central (Open access) remover nível superior: Revistas revisadas por pares remover
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11
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
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The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease

Amiri, Mahdi ; Kuech, Eva-Maria ; Shammas, Hadeel ; Wetzel, Gabi ; Naim, Hassan Y. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 25, 2016, Vol.25, p.25-29 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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12
Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
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Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

Siebert, Marina ; Bock, Hugo ; Michelin-Tirelli, Kristiane ; Coelho, Janice C. ; Giugliani, Roberto ; Saraiva-Pereira, Maria Luiza Morava, Eva ; Peters, Verena ; Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry

JIMD Reports - Case and Research Reports, 2012/6, 2013, Vol.9, p.7-16 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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13
Niemann-Pick Disease Type C: New Aspects in a Long Published Family - Partial Manifestations in Heterozygotes
Niemann-Pick Disease Type C: New Aspects in a Long Published Family - Partial Manifestations in Heterozygotes
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Niemann-Pick Disease Type C: New Aspects in a Long Published Family - Partial Manifestations in Heterozygotes

Harzer, Klaus ; Beck-Wödl, Stefanie ; Bauer, Peter Peters, Verena ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry ; Morava, Eva

JIMD Reports - Volume 12, 2014, Vol.12, p.25-29 [Periódico revisado por pares]

Switzerland: Springer International Publishing AG

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14
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes
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Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

Komulainen, Tuomas ; Hautakangas, Milla-Riikka ; Hinttala, Reetta ; Pakanen, Salla ; Vähäsarja, Vesa ; Lehenkari, Petri ; Olsen, Päivi ; Vieira, Päivi ; Saarenpää-Heikkilä, Outi ; Palmio, Johanna ; Tuominen, Hannu ; Kinnunen, Pietari ; Majamaa, Kari ; Rantala, Heikki ; Uusimaa, Johanna Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 23, 2015, Vol.23, p.91-100 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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15
The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases
The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases
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The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases

Mazzoccoli, Gianluigi ; Mazza, Tommaso ; Vinciguerra, Manlio ; Castellana, Stefano ; Scarpa, Maurizio Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 18, 2015, Vol.18, p.93-105 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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16
The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case
The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case
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The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

Tchan, M. C. ; Wilcken, B. ; Christodoulou, J. Morava, Eva ; Peters, Verena ; Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry

JIMD Reports - Case and Research Reports, 2012/6, 2013, Vol.9, p.81-84 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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17
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients
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ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients

Dercksen, M. ; Crutchley, A. C. ; Honey, E. M. ; Lippert, M. M. ; Matthijs, G. ; Mienie, L. J. ; Schuman, H. C. ; Vorster, B. C. ; Jaeken, J. Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.17-23 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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18
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia
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A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

Tran, Thanh-Thanh (Claire) V. ; Liu, Ying ; Zwick, Michael E. ; Ramachandran, Dhanya ; Cutler, David J. ; Huang, Xiaoping ; Berry, Gerard T. ; Fridovich-Keil, Judith L. Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 19, 2015, Vol.19, p.1-6 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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19
An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
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An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease

Bennett, James T. ; Schwarz, Kathleen B. ; Swanson, Phillip D. ; Hahn, Si Houn Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Volume 10, 2013, Vol.10, p.79-82 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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20
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance
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Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance

Ünal, Özlem ; Coşkun, Turgay ; Orhan, Diclehan ; Tokatl, Ayşegül ; Dursun, Ali ; Hişmi, Burcu ; Özyüncü, Özgür ; Sivri, Serap Hatice Kalkanoğlu Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, Eva

JIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.33-36 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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