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Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
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Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

Verma, Jyotsna ; Thomas, Divya C. ; Kasper, David C. ; Sharma, Sandeepika ; Puri, Ratna D. ; Bijarnia-Mahay, Sunita ; Mistry, Pramod K. ; Verma, Ishwar C. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 31, 2017, Vol.31, p.15-27 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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Severe Impairment of Regulatory T-Cells and Th1-Lymphocyte Polarization in Patients with Gaucher Disease
Severe Impairment of Regulatory T-Cells and Th1-Lymphocyte Polarization in Patients with Gaucher Disease
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Severe Impairment of Regulatory T-Cells and Th1-Lymphocyte Polarization in Patients with Gaucher Disease

Sotiropoulos, Christos ; Theodorou, George ; Repa, Constantina ; Marinakis, Theodoros ; Verigou, Eugenia ; Solomou, Elena ; Karakantza, Marina ; Symeonidis, Argiris Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 18, 2015, Vol.18, p.107-115 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis
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Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis

Berends, Lisette M. ; Struys, Eduard A. ; Roos, Birthe ; Holwerda, Ulbe ; Jansen, Erwin E. W. ; Salomons, Gajja S. ; Wamelink, Mirjam M. C. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 37, 2017, Vol.37, p.13-17 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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Salmon marine farming: Fish harvesting, a key stage
Salmon marine farming: Fish harvesting, a key stage
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Salmon marine farming: Fish harvesting, a key stage

Knockaert, C Lesel, R ; Lazard, J

Cahiers agricultures, 2009, Vol.18 (2-3), p.183-188

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A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
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A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein

Morita, Masashi ; Kobayashi, Junpei ; Yamazaki, Kozue ; Kawaguchi, Kosuke ; Honda, Ayako ; Sugai, Kenji ; Shimozawa, Nobuyuki ; Koide, Reiji ; Imanaka, Tsuneo Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Volume 10, 2013, Vol.10, p.95-102 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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6
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)
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Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)

Dragneva, Sonya ; Szyszka-Niagolov, Monika ; Ivanova, Aneta ; Mateva, Lyudmila ; Izumi, Rumiko ; Aoki, Yoko ; Matsubara, Yoichi Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, Eva

JIMD Reports Volume 16, 2014, Vol.16, p.57-64 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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7
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome
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CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome

Barca, Emanuele ; Tang, Maoxue ; Kleiner, Giulio ; Engelstad, Kristin ; DiMauro, Salvatore ; Quinzii, Catarina M. ; De Vivo, Darryl C. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 29, 2016, Vol.29, p.47-52 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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8
Neonatal Bone Marrow Transplantation in MPS IIIA Mice
Neonatal Bone Marrow Transplantation in MPS IIIA Mice
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Neonatal Bone Marrow Transplantation in MPS IIIA Mice

Lau, Adeline A ; Shamsani, N. Jannah ; Winner, Leanne K. ; Hassiotis, Sofia ; King, Barbara M. ; Hopwood, John J. ; Hemsley, Kim M. Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.121-132 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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9
Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome
Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome
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Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome

Ho, A. C. C. ; Fung, C. W. ; Siu, T. S. ; Ma, O. C. K. ; Lam, C. W. ; Tam, S. ; Wong, V. C. N. Peters, Verena ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry ; Morava, Eva

JIMD Reports - Volume 12, 2014, Vol.12, p.129-134 [Periódico revisado por pares]

Cham: Springer International Publishing

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10
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]

Cham: Springer International Publishing

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