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1
Friedreich Ataxia in Classical Galactosaemia
Friedreich Ataxia in Classical Galactosaemia
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Friedreich Ataxia in Classical Galactosaemia

Neville, Siobhán ; O’Sullivan, Siobhan ; Sweeney, Bronagh ; Lynch, Bryan ; Hanrahan, Donncha ; Knerr, Ina ; Lynch, Sally Ann ; Crushell, Ellen

JIMD Reports, Volume 26, 2016-01, Vol.26, p.1-5 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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2
A computational approach for the discovery of protein-RNA networks
A computational approach for the discovery of protein-RNA networks
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A computational approach for the discovery of protein-RNA networks

Marchese, Domenica, 1986 ; Livi, Carmen Maria ; Tartaglia, Gian Gaetano

Methods in molecular biology (Clifton, N.J.), 2016

Humana Press (Springer Imprint)

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3
The Role of Health Status in Older Adults’ Perceptions of the Usefulness of eHealth Technology
The Role of Health Status in Older Adults’ Perceptions of the Usefulness of eHealth Technology
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The Role of Health Status in Older Adults’ Perceptions of the Usefulness of eHealth Technology

Best, Ryan ; Souders, Dustin J. ; Charness, Neil ; Mitzner, Tracy L. ; Rogers, Wendy A.

Human Aspects of IT for the Aged Population. Design for Everyday Life, 2015-09, p.3-14 [Periódico revisado por pares]

Cham: Springer International Publishing

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4
Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)
Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)
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Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)

Liu, Hao-Chuan ; Perrin, Amandine ; Hsu, Ting-Rong ; Yang, Chia-Feng ; Lin, Hsiang-Yu ; Yu, Wen-Chung ; Niu, Dau-Ming

JIMD Reports, Volume 22, 2015-01, Vol.22, p.107-113 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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5
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
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Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor

Brodszki, Nicholas ; Svensson, Maria ; van Kuilenburg, André B. P. ; Meijer, Judith ; Zoetekouw, Lida ; Truedsson, Lennart ; Toporski, Jacek

JIMD Reports, Volume 24, 2015-01, Vol.24, p.83-89 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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6
Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme®) to Agalsidase Alfa (Replagal®)
Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme®) to Agalsidase Alfa (Replagal®)
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Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme®) to Agalsidase Alfa (Replagal®)

Tsuboi, Kazuya ; Yamamoto, Hiroshi ; Somura, Fuji ; Goto, Hiromi

JIMD Reports, Volume 15, 2015-01, Vol.15, p.105-111 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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7
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis
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The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis

Roberts, N. B. ; Curtis, S. A. ; Milan, A. M. ; Ranganath, L. R.

JIMD Reports, Volume 24, 2015-01, Vol.24, p.51-66 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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8
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa
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Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa

Goker-Alpan, Ozlem ; Nedd, Khan ; Shankar, Suma P. ; Lien, Yeong-Hau H. ; Weinreb, Neal ; Wijatyk, Anna ; Chang, Peter ; Martin, Rick

JIMD Reports, Volume 23, 2015-01, Vol.23, p.7-15 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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9
Check Your Stereotypes at the Door: An Analysis of Gender Typecasts in Social Human-Robot Interaction
Check Your Stereotypes at the Door: An Analysis of Gender Typecasts in Social Human-Robot Interaction
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Check Your Stereotypes at the Door: An Analysis of Gender Typecasts in Social Human-Robot Interaction

Rea, Daniel J. ; Wang, Yan ; Young, James E.

Social Robotics, 2015-01, p.554-563 [Periódico revisado por pares]

Cham: Springer International Publishing

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10
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
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Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

Gramer, Gwendolyn ; Haege, Gisela ; Fang-Hoffmann, Junmin ; Hoffmann, Georg F. ; Bartram, Claus R. ; Hinderhofer, Katrin ; Burgard, Peter ; Lindner, Martin

JIMD Reports, Volume 23, 2015-01, Vol.23, p.101-112 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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