Hakutulokset - Carlos R. Ferreira

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  1. 1
    Lysosomal storage diseases

    Lysosomal storage diseases Tekijä Carlos R. Ferreira, William A. Gahl

    Julkaistu 2016
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  2. 2
    Disorders of metal metabolism

    Disorders of metal metabolism Tekijä Carlos R. Ferreira, William A. Gahl

    Julkaistu 2017
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  3. 3
    Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases

    Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases Tekijä Carlos R. Ferreira, David Cassiman, Nenad Blau

    Julkaistu 2019
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  4. 4
    ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

    ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency Tekijä Carlos R. Ferreira, Thomas O. Carpenter, Demetrios T. Braddock

    Julkaistu 2023
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  5. 5
    A proposed nosology of inborn errors of metabolism

    A proposed nosology of inborn errors of metabolism Tekijä Carlos R. Ferreira, Clara van Karnebeek, Jerry Vockley, Nenad Blau

    Julkaistu 2018
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  6. 6
    An international classification of inherited metabolic disorders (<scp>ICIMD</scp>)

    An international classification of inherited metabolic disorders (<scp>ICIMD</scp>) Tekijä Carlos R. Ferreira, Shamima Rahman, Markus A. Keller, Johannes Zschocke

    Julkaistu 2020
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  7. 7
    Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

    Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology Tekijä Bobby G. Ng, Hudson H. Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R. Ferreira

    Julkaistu 2024
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  8. 8
    Recognizable phenotypes in CDG

    Recognizable phenotypes in CDG Tekijä Carlos R. Ferreira, Ruqaia Altassan, Dorinda Marques‐da‐Silva, Rita Francisco, Jaak Jaeken, Éva Morava

    Julkaistu 2018
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  9. 9
    Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in <scp><i>MBTPS1</i></scp>

    Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in <scp><i>MBTPS1</i></scp> Tekijä Daniel R. Carvalho, Carlos E. Speck‐Martins, Jaime Moritz Brum, Carlos R. Ferreira, Nara Sobreira

    Julkaistu 2020
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  10. 10
    Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

    Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions Tekijä Clara D. van Karnebeek, Bryan Sayson, Jessica J. Y. Lee, Laura A. Tseng, Nenad Blau, Gabriella Horváth, Carlos R. Ferreira

    Julkaistu 2018
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  11. 11
    Unique skeletal manifestations in patients with Primrose syndrome

    Unique skeletal manifestations in patients with Primrose syndrome Tekijä Veronica Arora, Eyby Leon, Jullianne Diaz, Hanne Hove, Daniel R. Carvalho, Kenji Kurosawa, Naoto Nishimura, Gen Nishimura, Renu Saxena, Carlos R. Ferreira, Ratna Dua Puri, Ishwar C. Verma

    Julkaistu 2020
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  12. 12
    DDX58 and Classic Singleton-Merten Syndrome

    DDX58 and Classic Singleton-Merten Syndrome Tekijä Carlos R. Ferreira, Yanick J. Crow, William A. Gahl, Pamela J. Gardner, Raphaela Goldbach‐Mansky, Sun Jin Hur, Adriana A. de Jesus, Michele Nehrebecky, Ji Woo Park, Tracy A. Briggs

    Julkaistu 2018
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  13. 13
    Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

    Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app Tekijä Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick F.A. Houben, Sylvia Stöckler‐Ipsiroglu, Carlos R. Ferreira, Clara D.M. van Karnebeek

    Julkaistu 2021
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  14. 14
    The Metabolic Treatabolome and <scp>Inborn Errors of Metabolism Knowledgebase</scp> therapy tool: Do not miss the opportunity to treat!

    The Metabolic Treatabolome and <scp>Inborn Errors of Metabolism Knowledgebase</scp> therapy tool: Do not miss the opportunity to treat! Tekijä Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Barclay Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D.M. van Karnebeek

    Julkaistu 2025
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  15. 15
    Skeletal dysplasias in Latin America

    Skeletal dysplasias in Latin America Tekijä Denise P. Cavalcanti, Virginia Fano, Cecília Mellado, Maria Dora Jazmin Lacarrubba‐Flores, Cynthia Silveira, Karina da Costa Silveira, Mariana del Pino, Angélica Moresco, Silvia Caíno, Rosario Ramos Mejía, Cristián García, Guillermo Lay‐Son, Carlos R. Ferreira

    Julkaistu 2020
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  16. 16
    Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

    Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies Tekijä Carlos R. Ferreira, Kristina Kintzinger, Mary E. Hackbarth, Ulrike Botschen, Yvonne Nitschke, M. Zulf Mughal, Geneviève Baujat, Dirk Schnabel, Eric Yuen, William A. Gahl, Rachel I. Gafni, Qing Liu, Pedro E. Huertas, Gus Khursigara, Frank Rutsch

    Julkaistu 2021
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  17. 17
    Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase

    Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase Tekijä Shira G. Ziegler, Carlos R. Ferreira, Elena Gallo MacFarlane, Ryan C. Riddle, Ryan E. Tomlinson, Emily Y. Chew, Ludovic Martin, Chen-Ting Ma, Eduard Sergienko, Anthony B. Pinkerton, José Luís Millán, William A. Gahl, Harry C. Dietz

    Julkaistu 2017
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  18. 18
    Hypercementosis Associated with <i>ENPP1</i> Mutations and GACI

    Hypercementosis Associated with <i>ENPP1</i> Mutations and GACI Tekijä Vivek Thumbigere‐Math, Areej Alqadi, Natalia I. Chalmers, M.B. Chavez, Emily Y. Chu, Michael T. Collins, Carlos R. Ferreira, Kirsten FitzGerald, Rachel I. Gafni, William A. Gahl, Kevin J Hsu, Mary Scott Ramnitz, Martha J. Somerman, Shira G. Ziegler, Brian L. Foster

    Julkaistu 2017
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  19. 19
    The role of the clinician in the multi‐omics era: are you ready?

    The role of the clinician in the multi‐omics era: are you ready? Tekijä Clara D.M. van Karnebeek, Saskia B. Wortmann, Maja Tarailo‐Graovac, Mirjam Langeveld, Carlos R. Ferreira, Jiddeke M. van de Kamp, Carla E. M. Hollak, Wyeth W. Wasserman, Hans R. Waterham, Ron A. Wevers, Tobias B. Haack, Ronald J. A. Wanders, Kym M. Boycott

    Julkaistu 2018
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  20. 20
    Nosology of genetic skeletal disorders: 2023 revision

    Nosology of genetic skeletal disorders: 2023 revision Tekijä Sheila Unger, Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder, Daniel H. Cohn, Valérie Cormier‐Daire, Katta M. Girisha, Christine M Hall, Deborah Krakow, Outi Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga

    Julkaistu 2023
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