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1
Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria
Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria
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Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria

Nazi, Sepideh ; Rohani, Farzaneh ; Sajedi, Firoozeh ; Biglarian, Akbar ; Setoodeh, Arya Peters, Verena ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry ; Morava, Eva

JIMD Reports - Volume 12, 2014, Vol.12, p.85-89 [Periódico revisado por pares]

Cham: Springer International Publishing

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2
Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease
Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease
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Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease

Barrett, M. J. ; Shanker, V. L. ; Severt, W. L. ; Raymond, D. ; Gross, S. J. ; Schreiber-Agus, N. ; Kornreich, R. ; Ozelius, L. J. ; Bressman, S. B. ; Saunders-Pullman, R. Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, Eva

JIMD Reports Volume 16, 2014, Vol.16, p.31-38 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review
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Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

Maratha, Ashwini ; Colhoun, Hugh-Owen ; Knerr, Ina ; Coss, Karen P. ; Doran, Peter ; Treacy, Eileen P. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 34, 2017, Vol.34, p.33-42 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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4
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
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Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Fleger, M. ; Willomitzer, J. ; Meinsma, R. ; Alders, M. ; Meijer, J. ; Hennekam, R. C. M. ; Huemer, M. ; van Kuilenburg, A. B. P. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 37, 2017, Vol.37, p.49-54 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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5
Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease
Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease
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Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

McNamara, Erin R. ; Austin, Stephanie ; Case, Laura ; Wiener, John S. ; Peterson, Andrew C. ; Kishnani, Priya S. Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 20, 2015, Vol.20, p.5-10 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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6
Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation
Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation
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Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

Coletti, Hannah Y. ; Aldenhoven, Mieke ; Yelin, Karina ; Poe, Michele D. ; Kurtzberg, Joanne ; Escolar, Maria L. Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima

JIMD Reports, Volume 20, 2015, Vol.20, p.77-86 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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7
StructuRegNet: Structure-Guided Multimodal 2D-3D Registration
StructuRegNet: Structure-Guided Multimodal 2D-3D Registration
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StructuRegNet: Structure-Guided Multimodal 2D-3D Registration

Leroy, Amaury ; Cafaro, Alexandre ; Gessain, Grégoire ; Champagnac, Anne ; Grégoire, Vincent ; Deutsch, Eric ; Lepetit, Vincent ; Paragios, Nikos

Oncoimmunology, 2023, Vol.14229 (1), p.771-780 [Periódico revisado por pares]

Taylor & Francis

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8
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia
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IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

Stockmann, Henning ; Coss, Karen P. ; Rubio-Gozalbo, M. Estela ; Knerr, Ina ; Fitzgibbon, Maria ; Maratha, Ashwini ; Wilson, James ; Rudd, Pauline ; Treacy, Eileen P. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 27, 2016, Vol.27, p.47-53 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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9
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age
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Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

Lampe, Christina ; Atherton, Andrea ; Burton, Barbara K. ; Descartes, Maria ; Giugliani, Roberto ; Horovitz, Dafne D. G. ; Kyosen, Sandra O. ; Magalhães, Tatiana S. P. C. ; Martins, Ana Maria ; Mendelsohn, Nancy J. ; Muenzer, Joseph ; Smith, Laurie D. Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, Eva

JIMD Reports, Volume 14, 2014, Vol.14, p.99-113 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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10
Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter
Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter
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Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter

Westhoff, M. ; Litterst, P.

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.77-82 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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