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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

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

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

Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, Verena

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

Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, Verena

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

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

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

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

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

Germany: Springer Berlin / Heidelberg

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16
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

Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, Verena

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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17
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

Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, Verena

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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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

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

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

Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, Verena

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

Zschocke, Johannes ; Gibson, K. Michael ; Brown, Garry ; Morava, Eva ; Peters, Verena

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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