lysosomal-storage-disease - Page 1

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Weedon's Skin Pathology E-Book

David Weedon

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Medecine

Weedon's Skin Pathology E-Book

David Weedon

3354 pages

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Swaiman's Pediatric Neurology - E-Book

Kenneth F. Swaiman, Stephen Ashwal, Donna M Ferriero, Nina F Schor

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Swaiman's Pediatric Neurology - E-Book

Kenneth F. Swaiman, Stephen Ashwal, Donna M Ferriero, Nina F Schor

6339 pages

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Hematology E-Book

Leslie E. Silberstein, John Anastasi

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Hematology E-Book

Leslie E. Silberstein, John Anastasi

4888 pages

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Weedon s Skin Pathology Essentials E-Book

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Weedon's Skin Pathology Essentials E-Book

Ronald Johnston

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Weedon's Skin Pathology Essentials E-Book

Ronald Johnston

811 pages

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Herzog Andreas, Hartung Ralf, Reuser, Hermanns Pia, Runz Heiko, Karabul Nesrin, Gökce Seyfullah, Pohlenz Joachim, Kampmann Christoph, Lampe Christina, Beck Michael, Mengel Eugen

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Herzog Andreas, Hartung Ralf, Reuser, Hermanns Pia, Runz Heiko, Karabul Nesrin, Gökce Seyfullah, Pohlenz Joachim, Kampmann Christoph, Lampe Christina, Beck Michael, Mengel Eugen

14 pages

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Treatment of adult MPSI mouse brains with IDUA-expressing mesenchymal stem cells decreases GAG deposition and improves exploratory behavior

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Treatment of adult MPSI mouse brains with IDUA-expressing mesenchymal stem cells decreases GAG deposition and improves exploratory behavior

Pereira Vanessa, Yasumura, Tenório Lígia, Lisboa, Matsumoto Priscila, Stilhano Roberta, Samoto, Calegare, Brandão Letícia, D’Almeida Vânia, Porcionatto Marimélia, Toma Leny, Nader Helena, Valero Valderez, Camassola Melissa, Nardi Nance, Han Sang, De, Ad, Filippo

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Treatment of adult MPSI mouse brains with IDUA-expressing mesenchymal stem cells decreases GAG deposition and improves exploratory behavior

Pereira Vanessa, Yasumura, Tenório Lígia, Lisboa, Matsumoto Priscila, Stilhano Roberta, Samoto, Calegare, Brandão Letícia, D’Almeida Vânia, Porcionatto Marimélia, Toma Leny, Nader Helena, Valero Valderez, Camassola Melissa, Nardi Nance, Han Sang, De, Ad, Filippo

11 pages

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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

Hop, Karstens, Wokke, Kuks, Notermans, Faber, Verschuuren, Kruijshaar, Reuser, Van, De

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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

Hop, Karstens, Wokke, Kuks, Notermans, Faber, Verschuuren, Kruijshaar, Reuser, Van, De

10 pages

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Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

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Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

Giugliani Roberto, Mehta Atul, Nicholls Kathy, Barisoni Laura, Jennette, Bragat Alexander, Castelli Jeff, Sitaraman Sheela, Lockhart, Germain, Hughes, Boudes

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Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

Giugliani Roberto, Mehta Atul, Nicholls Kathy, Barisoni Laura, Jennette, Bragat Alexander, Castelli Jeff, Sitaraman Sheela, Lockhart, Germain, Hughes, Boudes

11 pages

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