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Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.
Kishnani, Priya S; Al-Hertani, Walla; Balwani, Manisha; Göker-Alpan, Özlem; Lau, Heather A; Wasserstein, Melissa; Weinreb, Neal J; Grabowski, Gregory.
Afiliación
  • Kishnani PS; Duke University Medical Center, Department of Molecular Genetics and Microbiology, 905 Lasalle Street, GSRB1, 4th Floor, Durham, NC 27710, USA. Electronic address: priya.kishnani@duke.edu.
  • Al-Hertani W; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, 300 Longwood Avenue, Boston, MA 02115, USA.
  • Balwani M; Icahn School of Medicine at Mount Sinai, Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, 1428 Madison Avenue, 1st Floor, New York, NY 10029, USA.
  • Göker-Alpan Ö; Lysosomal & Rare Disorders Research & Treatment Center, 3702 Pender Drive, Suite 170, Fairfax, VA 22030, USA.
  • Lau HA; Ultragenyx Pharmaceutical Inc., Global Clinical Development, 840 Memorial Drive, Cambridge, MA 02139, USA.
  • Wasserstein M; The Children's Hospital at Montefiore and the Albert Einstein College of Medicine, Division of Pediatric Genetic Medicine, Departments of Pediatrics and Genetics, 3411 Wayne Ave, 9th Floor, Bronx, NY 10467, USA.
  • Weinreb NJ; University of Miami Miller School of Medicine, Departments of Human Genetics and Medicine, Hematology Division, 7367 Wexford Terrace, Boca Raton, FL 33433, USA.
  • Grabowski G; University of Cincinnati College of Medicine, Department of Pediatrics, and Department of Molecular Genetics, Biochemistry and Microbiology, Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH, USA.
Mol Genet Metab ; 135(2): 154-162, 2022 02.
Article en En | MEDLINE | ID: mdl-34972655
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Gaucher Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2022 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Gaucher Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2022 Tipo del documento: Article