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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
Furlan, Francesca; Rovelli, Attilio; Rigoldi, Miriam; Filocamo, Mirella; Tappino, Barbara; Friday, Douglas; Gasperini, Serena; Mariani, Silvana; Izzi, Claudia; Bondioni, Maria Pia; Gellera, Cinzia; Venerando, Anna; Villa, Nicoletta; Del Carmen Rodriguez Perez, Maria; Pavan, Fabio; Biondi, Andrea; Parini, Rossella.
Afiliación
  • Furlan F; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Rovelli A; Clinica Pediatrica, Fondazione MBBM, Università Milano-Bicocca, Monza, Italy.
  • Rigoldi M; Clinica Pediatrica, Fondazione MBBM, Università Milano-Bicocca, Monza, Italy.
  • Filocamo M; Medical Genetics Unit S Gerardo Hospital, ASST Monza, Monza, Italy.
  • Tappino B; Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genoa, Italy.
  • Friday D; Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genoa, Italy.
  • Gasperini S; Diagenom GmbH Robert-Koch-Str. 10, D-18059, Rostock, Germany.
  • Mariani S; Clinica Pediatrica, Fondazione MBBM, Università Milano-Bicocca, Monza, Italy.
  • Izzi C; Clinica Ostetrica Fondazione MBBM Università Milano Bicocca, Monza, Italy.
  • Bondioni MP; Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, University of Brescia, Brescia, Italy.
  • Gellera C; Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy.
  • Venerando A; Unit of Genetics of Neurodegenerative and Metabolic Diseases,- Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Villa N; Unit of Genetics of Neurodegenerative and Metabolic Diseases,- Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Del Carmen Rodriguez Perez M; Medical Genetics Unit S Gerardo Hospital, ASST Monza, Monza, Italy.
  • Pavan F; U.O. di Neonatologia e Terapia Intensiva Neonatale, Ospedale dei Bambini, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Biondi A; Clinica Pediatrica, Fondazione MBBM, Università Milano-Bicocca, Monza, Italy.
  • Parini R; Clinica Pediatrica, Fondazione MBBM, Università Milano-Bicocca, Monza, Italy.
Ital J Pediatr ; 44(Suppl 2): 128, 2018 Nov 16.
Article en En | MEDLINE | ID: mdl-30442200
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Mucopolisacaridosis VII / Trasplante de Células Madre Hematopoyéticas Tipo de estudio: Diagnostic_studies Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Mucopolisacaridosis VII / Trasplante de Células Madre Hematopoyéticas Tipo de estudio: Diagnostic_studies Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2018 Tipo del documento: Article