Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

Autor: Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

Abstract Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS)

Externí odkaz: https://doaj.org/article/035cbead2c0241dba2d01dd40974329c

OR13-2 Characterizing the Impact of Burosumab on Bone Health in Children with X-Linked Hypophosphatemia: Results from Year 1 of the Disease Monitoring Program

Autor: Thomas Carpenter, Hamilton Cassinelli, Francis Glorieux, Joel Hetzer, J Lawrence Merritt II, Carolina A Moreira, Anthony Portale, Leanne Ward, Claudine Woo, Erik Imel

Publikováno v: Journal of the Endocrine Society. 6:A191-A192

X-linked hypophosphatemia (XLH) is a rare, heritable disorder wherein excess FGF23 leads to renal phosphate wasting and impaired activation of vitamin D. XLH is characterized by rickets and osteomalacia leading to bone pain, skeletal deformities, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da78c9ede284631124c81d2faab01fb8
https://doi.org/10.1210/jendso/bvac150.395

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program

Autor: Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100218- (2023)

Externí odkaz: https://doaj.org/article/51f01bfed75f42b5b1f964c5d5864064

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Autor: Arribas-Carreira L; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Swanson MA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Farris J; Boler-Parseghian Center for Rare and Neglected Disease, and Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA.; Department of Biology, Saginaw Valley State University, University Center, MI, USA., Østergaard E; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark., Tsiakas K; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Aquaviva-Bourdain C; Service Biochimie et Biologie Moléculaire, UM Pathologies Héréditaires du Métabolisme et du Globule Rouge, Centre de Biologie Est, CHU de Lyon, Lyon, France., Koutsoukos S; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA., Stence NV; Department of Radiology, University of Colorado, Aurora, CO, USA., Magistrati M; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Spector EB; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.; Molecular Genetics Lab, Precision DX, Children's Hospital Colorado, Aurora, CO, USA., Kronquist K; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.; Molecular Genetics Lab, Precision DX, Children's Hospital Colorado, Aurora, CO, USA., Christensen M; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark., Karstensen HG; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Achleitner MT; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Lawrence Merritt Ii J; Department of Pediatrics, University of Washington, Seattle, WA, USA., Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Grünewald S; Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK., Riela AR; Texas Child Neurology, Plano, TX, USA., Julve N; Department of Pediatrics, IMED Valencia Hospital, Valencia, Spain., Arnoux JB; Centre de Reference des Maladies Hereditaires, Necker Enfants Malades, Paris, France., Haldar K; Boler-Parseghian Center for Rare and Neglected Disease, and Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA., Donnini C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Santer R; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Lund AM; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria., Rodriguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Mar 06; Vol. 32 (6), pp. 917-933.