1
TITLE: European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis  Full Text
AUTHORS: 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.;
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
INDEXED IN: WOS
2
TITLE: Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations  Full Text
AUTHORS: 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;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
3
TITLE: Optimising care and follow-up of adults with achondroplasia  Full Text
AUTHORS: 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;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
4
TITLE: Enzyme replacement therapy in patients with mucopolysaccharidosis type VI: Updated findings from the MPS VI clinical surveillance program  Full Text
AUTHORS: Paul Harmatz; Christina Lampe; Rossella Parini; Reena Sharma; Elisa Leao Teles; Julie Johnson; Debbie Sivam; Zlatko Sisic;
PUBLISHED: 2019, SOURCE: 15th Annual Research Meeting of the WORLDSymposium(TM) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 126, ISSUE: 2
INDEXED IN: WOS
5
TITLE: Mucopolysaccharidosis type VI enzyme replacement therapy outcomes across the disease spectrum: findings from the MPS VI clinical surveillance program  Full Text
AUTHORS: Paul Harmatz; Christina Lampe; Rossella Parini; Reena Sharma; Elisa Ledo Teles; Sara Hawley; Julie Johnson; Debbie Sivam; Zlatko Sisic;
PUBLISHED: 2018, SOURCE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 2
INDEXED IN: WOS
6
TITLE: Mucopolysaccharidosis type VI enzyme replacement therapy initiated in adulthood: Findings from the MPS VI clinical surveillance program  Full Text
AUTHORS: Paul Harmatz; Christina Lampe; Rossella Parini; Reena Sharma; Elisa Lea Teles; Sara Hawley; Julie Johnson; Debbie Sivam; Zlatko Sisic;
PUBLISHED: 2018, SOURCE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 2
INDEXED IN: WOS
7
TITLE: MUCOPOLYSACCHARIDOSIS VI ENZYME REPLACEMENT THERAPY OUTCOMES ACROSS THE DISEASE SPECTRUM: FINDINGS FROM THE MPS VI CLINICAL SURVEILLANCE PROGRAM  Full Text
AUTHORS: Harmatz, P; Lampe, C; Parini, R; Sharma, R; Leao Teles, EL; Hawley, S; Johnson, J; Sivam, D; Sisic, Z;
PUBLISHED: 2018, SOURCE: 40th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 3
INDEXED IN: WOS
8
TITLE: MUCOPOLYSACCHARIDOSIS VI ENZYME REPLACEMENT THERAPY INITIATED IN ADULTHOOD: FINDINGS FROM THE MPS VI CLINICAL SURVEILLANCE PROGRAM  Full Text
AUTHORS: Lampe, C; Harmatz, P; Parini, R; Sharma, R; Leao Teles, EL; Hawley, S; Johnson, J; Sivam, D; Sisic, Z;
PUBLISHED: 2018, SOURCE: 40th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 3
INDEXED IN: WOS
9
TITLE: 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
AUTHORS: Roberto Giugliani; Christina Lampe; Nathalie Guffon; David Ketteridge; Elisa Leao Teles; Simon A Jones; Adrian Quartel; Paul R Harmatz;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, ISSUE: 1-2
INDEXED IN: WOS
10
TITLE: The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)  Full Text
AUTHORS: 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;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 122, ISSUE: 1-2
INDEXED IN: WOS
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