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Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ahrens-Nicklas, Rebecca; Schlotawa, Lars; Ballabio, Andrea; Brunetti-Pierri, Nicola; De Castro, Mauricio; Dierks, Thomas; Eichler, Florian; Ficicioglu, Can; Finglas, Alan; Gaertner, Jutta; Kirmse, Brian; Klepper, Joerg; Lee, Marcus; Olsen, Amber; Parenti, Giancarlo; Vossough, Arastoo; Vanderver, Adeline; Adang, Laura A.
  • Ahrens-Nicklas R; Division of Human Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: ahrensnicklasr@email.chop.edu.
  • Schlotawa L; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany. Electronic address: lars.schlotawa@med.uni-goettingen.de.
  • Ballabio A; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, Federico II University of Naples, Italy.
  • De Castro M; United States Air Force Medical Genetics Center, 81st Medical Group, Keesler AFB, MS, USA.
  • Dierks T; Faculty of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany.
  • Eichler F; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Ficicioglu C; Division of Human Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Finglas A; MSD Action Foundation, Dublin, Ireland.
  • Gaertner J; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany.
  • Kirmse B; Department of Pediatrics, Genetic and Metabolism, University of Mississippi Medical Center, USA.
  • Klepper J; Department of Pediatrics and Neuropediatrics, Children's Hospital, Klinikum Aschaffenburg-Alzenau, Germany.
  • Lee M; Division of Pediatric Neurology, Children's of Mississippi, University of Mississippi Medical Center, Biloxi, MS, USA.
  • Olsen A; United MSD Foundation, USA.
  • Parenti G; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, Federico II University of Naples, Italy.
  • Vossough A; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Adang LA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: adangl@email.chop.edu.
Mol Genet Metab ; 123(3): 337-346, 2018 03.
Article en En | MEDLINE | ID: mdl-29397290
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sulfatasas / Enfermedades Raras / Consenso / Enfermedad por Deficiencia de Múltiples Sulfatasas Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sulfatasas / Enfermedades Raras / Consenso / Enfermedad por Deficiencia de Múltiples Sulfatasas Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article