| Autor: |
Harmatz P1, Hendriksz CJ2, Lampe C3, McGill JJ4, Parini R5, Leão Teles E6, Valayannopoulos V7, Cole TJ8, Matousek R9, Graham S9, Guffon N10, Quartel A9, he MPS VI Study Group co investigators were Yasmina Amraoui, Children's Hospital, Md, University of Mainz, Germany, Laila, Arash, Children's Hospital, University of Mainz, Germany, Javier Arroyo, Md, Hospital San Pedro de Alcantara, Hospital de día de Pediatría, Caceres, Spain, Ana, Cecliaíazevedo, Serviço de Genética Médica/HCPA, Md, Department of Genetics/UFRGS, Porto Alegre, Brazil, Barone, RITA MARIA ELISA, Department of Pediatrics, Md, University of Catania, Catania, Italy, Michael Beck, Md, D. N. Bennett Jones, Md, Consultant General Renal Physician, Whitehaven, Philippe Bernard, Md, Centre Hospitalier d'Arras, Arras, France, Thierry Billette de Villemeur, Hôpital Trousseau, Paris, France, Raquel, Boy, Hospital Universitário Pedro Ernesto, Md, Rio de Janeiro, Brazil, Susan, Conrad, Research Center Oakland, Oakland, Ca, Usa, Eduardo Coopman, Md, Hospital del Cobre D. e. Salvador, Calama, Chile, Agata Fiumara, Md, Department of Pediatrics, University of Catania, Catania, Italy, William, Frischman, The Townsville Hospital, Md, Townsville, Australia, Roberto, Giugliani, Phd, Md, Serviço de Genética Médica/HCPA, Department of Genetics/UFRGS, Porto Alegre, Brazil, Elio Gizzi, Md, Children's Hospital Research Center Oakland, Oakland, Usa, Ca, Paul, Harmatz, John J. Hopwood, Department of Genetic Medicine, Women'S, Children's Hospital Adelaide, North Adelaide, Australia, Simon Jones, Md, Royal Manchester Children's Hospital, Manchester, Paige Kaplan, Children's Hospital of Philadelphia, Philadelphia, Pa, Laura Keppen, Md, Department of Pediatrics, University of South Dakota School of Medicine, Sioux Falls, Sd, David Ketteridge, Department of Genetic Medicine, Prof Rudolf Korinthenberg, Universitätsklinikum Freiburg, Zentrum für Kinderheilkunde und Jugendmedizin, Klinik II Neuropädiatrie und Muskelerkrankungen, Freiburg, Germany, Michel, Kretz, Hôpital Civil de Colmar, Md, Le Parc Centre de la Mère et de l'Enfant, Colmar, Elisa Leão Teles, Md, Unidade de Doenças Metabólicas, Departamento Pediatria, Hospital de Sao João, Porto, Portugal, Claudia Lee, Mph, Shuan Pei Lin, MacKay Memorial Hospital, Md, Department of Genetics, Taipei, Taiwan, Lionel Lubitz, Md, Royal Children's Hospital, Melbourne, Ana Maria Martins, Md, Unifesp, Instituto de Oncologia Pediátrica, Graacc/unifesp, Departamento de Pediatria, São Paulo, Brazil, Clara Sá Miranda, M., Unidade de Biologia do Lisossoma e. Peroxisoma, Md, Instituto de Biologia Molecular e. Celular, Porto, Stephanie Oates, RN Department of Genetic Medicine, Anne O'Meara, Md, Our Lady's Hospital for Sick Children, Dublin, Ireland, Ans van der Ploeg, Md, Erasmus MC University Medical Center, Rotterdam, The, Netherlands, Isabel Cristina Neves de Souza, Md, Universidade Federal do Pará, Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto, Belém, Ray Pais, Md, Pediatric Hematology/Oncology, East Tennessee Children's Hospital, Knoxville, Tn, Gregory Pastores, Md, Phd, NYU Medical Center, Rusk Institute, New York, Usa, Ny, Lorenzo, Pavone, Barbara Plecko, U. n. i. v. Klinik fur Kinder und Jugendheilkunde, Graz, Austria, Silvio, Pozzi, Ospedale Vito Fazzi, Md, UO Pediatria, Lecce, Uwe Preiss, Md, Universitaetsklinik und Poliklinik fuer Kinder, Halle, Emerson Santana Santos, Md, Fundação Universidade de Ciências da Saúde de Alagoas Governador, Departamento de Pediatria, Maceió, Brazil, Maurizio, Scarpa, Department of Pediatrics, University of Padova, Padova, Italy, Schwartz, Ida Vanessa D., David, Sillence, Westmead, Australia, Luiz Carlos Santana da Silva, Phd, Universidade Federal do Pará, Centro de Ciências Biológicas, Hospital Universitário João de Barros Barreto, Belém, Brazil, Julie, Simon, Children's Hospital, Rn, Prof Giovanni Sorge, Department of Pediatrics, Robert Steiner, Departments of Pediatrics, Molecular, Medical, Genetics, Oregon Health Science University, Portland, Usa, Or, Valadares, Eugênia R., Hospital das Clínicas, Faculdade de Medicina da Universidade Federal de Minas Gerais UFMG, Avenida Professor Alfredo Balena, Belo Horizonte Minas Gerais, Bonito Victor, Md, Lewis Waber, Md, Phd, Pediatric Genetics, Metabolism, University of Texas Southwest Medical Center, Dallas, Usa, Tx, John, Waterson, Whitley, Chester B., University of Minnesota Medical School, Minneapolis, Usa, Mn, Edmond Wraith, J., Royal Manchester Children's Hospital, Md, Manchester, U. k. |
| Rok vydání: |
2017 |
| Předmět: |
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| Zdroj: |
Molecular genetics and metabolism. 122(1-2) |
| ISSN: |
1096-7206 |
| Popis: |
Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin-4-sulfate. Manifestations are multi-systemic and include skeletal abnormalities such as dysostosis multiplex and short stature. Reference height-for-age growth charts for treatment-naive MPS VI patients have been published for both the slowly and rapidly progressing populations. Categorization of disease progression for these charts was based on urinary GAG (uGAG) level; high (>200μg/mg creatinine) levels identified subjects as rapidly progressing. Height data for 141 patients who began galsulfase treatment by the age of 18years were collected and stratified by baseline uGAG level and age at ERT initiation in 3-year increments. The reference MPS VI growth charts were used to calculate change in Z-score from pre-treatment baseline to last follow-up. Among patients with high baseline uGAG levels, galsulfase ERT was associated with an increase in Z-score for those beginning treatment at 0-3, >3-6, >6-9, >9-12, and >12-15years of age (p |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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Full Text from ScienceDirect 