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TÍTULO: European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis  Full Text
AUTORES: Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Genevieve; Ben Omran, Tawfeg; Boero, Silvio; Cormier Daire, Valerie; Fredwall, Svein; Guillen Navarro, Encarna; Hoyer Kuhn, Heike; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B.;
PUBLICAÇÃO: 2023, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, NÚMERO: 1
INDEXADO EM: WOS
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TÍTULO: Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations  Full Text
AUTORES: Cormier Daire, Valerie; AlSayed, Moeenaldeen; Alves, Ines; Bengoa, Joana; Ben Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; Garel, Catherine; Guillen Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sergio B.; Mohnike, Klaus;
PUBLICAÇÃO: 2022, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, NÚMERO: 1
INDEXADO EM: Scopus WOS
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TÍTULO: Optimising care and follow-up of adults with achondroplasia  Full Text
AUTORES: Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Ines; Ben Omran, Tawfeg; Boero, Silvio; Cormier Daire, Valerie; Guillen Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B.; Wright, Michael;
PUBLICAÇÃO: 2022, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, NÚMERO: 1
INDEXADO EM: Scopus WOS
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TÍTULO: Enzyme replacement therapy in patients with mucopolysaccharidosis type VI: Updated findings from the MPS VI clinical surveillance program  Full Text
AUTORES: Paul Harmatz; Christina Lampe; Rossella Parini; Reena Sharma; Elisa Leao Teles; Julie Johnson; Debbie Sivam; Zlatko Sisic;
PUBLICAÇÃO: 2019, FONTE: 15th Annual Research Meeting of the WORLDSymposium(TM) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 126, NÚMERO: 2
INDEXADO EM: WOS
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TÍTULO: Mucopolysaccharidosis type VI enzyme replacement therapy outcomes across the disease spectrum: findings from the MPS VI clinical surveillance program  Full Text
AUTORES: Paul Harmatz; Christina Lampe; Rossella Parini; Reena Sharma; Elisa Ledo Teles; Sara Hawley; Julie Johnson; Debbie Sivam; Zlatko Sisic;
PUBLICAÇÃO: 2018, FONTE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, NÚMERO: 2
INDEXADO EM: WOS
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TÍTULO: Mucopolysaccharidosis type VI enzyme replacement therapy initiated in adulthood: Findings from the MPS VI clinical surveillance program  Full Text
AUTORES: Paul Harmatz; Christina Lampe; Rossella Parini; Reena Sharma; Elisa Lea Teles; Sara Hawley; Julie Johnson; Debbie Sivam; Zlatko Sisic;
PUBLICAÇÃO: 2018, FONTE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, NÚMERO: 2
INDEXADO EM: WOS
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TÍTULO: MUCOPOLYSACCHARIDOSIS VI ENZYME REPLACEMENT THERAPY OUTCOMES ACROSS THE DISEASE SPECTRUM: FINDINGS FROM THE MPS VI CLINICAL SURVEILLANCE PROGRAM  Full Text
AUTORES: Harmatz, P; Lampe, C; Parini, R; Sharma, R; Leao Teles, EL; Hawley, S; Johnson, J; Sivam, D; Sisic, Z;
PUBLICAÇÃO: 2018, FONTE: 40th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, NÚMERO: 3
INDEXADO EM: WOS
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TÍTULO: MUCOPOLYSACCHARIDOSIS VI ENZYME REPLACEMENT THERAPY INITIATED IN ADULTHOOD: FINDINGS FROM THE MPS VI CLINICAL SURVEILLANCE PROGRAM  Full Text
AUTORES: Lampe, C; Harmatz, P; Parini, R; Sharma, R; Leao Teles, EL; Hawley, S; Johnson, J; Sivam, D; Sisic, Z;
PUBLICAÇÃO: 2018, FONTE: 40th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, NÚMERO: 3
INDEXADO EM: WOS
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TÍTULO: Long-term galsulfase treatment associated with improved survival of patients with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): 15 year follow-up from the survey study  Full Text
AUTORES: Roberto Giugliani; Christina Lampe; Nathalie Guffon; David Ketteridge; Elisa Leao Teles; Simon A Jones; Adrian Quartel; Paul R Harmatz;
PUBLICAÇÃO: 2017, FONTE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, NÚMERO: 1-2
INDEXADO EM: WOS
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TÍTULO: The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)  Full Text
AUTORES: Harmatz, P; Hendriksz, CJ; Lampe, C; McGill, JJ; Parini, R; Leao Teles, E; Valayannopoulos, V; Tj. Cole; Matousek, R; Graham, S; Guffon, N; Quartel, A;
PUBLICAÇÃO: 2017, FONTE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 122, NÚMERO: 1-2
INDEXADO EM: WOS
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