Mucopolysaccharidosis

Results: 75



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1

Implantação de um protocolo laboratorial para o diagnóstico de Mucopolissacaridoses VI e VII* Evaluation of a laboratorial protocol for Mucopolysaccharidosis VI and VII Gustavo Monteiro VIANA1; Camila de Britto Ponte

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Source URL: www.rbac.org.br

Language: Portuguese
    2

    What is HUNTER SYNDROME? Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a rare and progressive lysosomal storage disease inherited in an X-linked recessive

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    Source URL: www.shirecanada.com

    Language: English - Date: 2016-03-02 15:52:17
      3Mucopolysaccharidosis / Hunter syndrome / Hurler syndrome / Morquio syndrome / Sanfilippo syndrome / Maroteaux–Lamy syndrome / Genetic disorder / Lysosomal storage disease / Sly syndrome / Health / Syndromes / Rare diseases

      MUCOPOLYSACCHARIDOSES Rare Diseases Unit of the Finnish Association of People with Physical Disabilities Support for this guide was provided by Genzyme.

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      Source URL: www.invalidiliitto.fi

      Language: English - Date: 2015-07-19 05:13:47
      4Genetic genealogy / BioMarin Pharmaceutical / Glycogen storage disease type II / Acid alpha-glucosidase / Lysosomal storage disease / Mucopolysaccharidosis / Alglucosidase alfa / Neuronal ceroid lipofuscinosis / Tetrahydrobiopterin / Health / Rare diseases / Medicine

      May 27, 2014 BioMarin Doses First Patient in Phase 3 INSPIRE Trial With BMN 701 for the Treatment of Pompe Disease Proprietary Glycosylation Independent Lysosomal Targeting (GILT) Tagging Technology Has Been Shown to Im

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      Source URL: www.apjohnventures.com

      Language: English - Date: 2014-05-29 15:30:33
      5BioMarin Pharmaceutical / Rare diseases / Orphan drugs / Lysosomal storage diseases / Glycogen storage disease type II / Mucopolysaccharidosis / Mannose 6-phosphate / Hurler syndrome / Phenylketonuria / Health / Medicine / Genetic genealogy

      Microsoft Word - Apjohn Ventures Fund 2Q10 Letter Final

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      Source URL: www.apjohnventures.com

      Language: English
      6Mucopolysaccharidosis / Lysosomal storage disease / Sulfatase / Brooks

      Mechanisms in Cell Biology and Diseases – Publications ________________________________________________________________________________ Journal ArticlesKakavanos R, Lehn P, Callebaut I, Meikle PJ, Parki

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      Source URL: unisa.edu.au

      Language: English - Date: 2012-07-17 01:09:00
      7Bag valve mask / Umbilical cord / Laerdal / Resuscitator / Infant / Cardiopulmonary resuscitation / Mucopolysaccharidosis / Medicine / Biology / Intensive care medicine

      NeoNatalie Newborn Simulator Directions for Use NeoNatalie is a newborn baby resuscitation simulator which can simulate presence or absence of essential vital signs such as crying, spontaneous breathing, palpable umbilic

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      Source URL: cdn.laerdal.com

      Language: English - Date: 2013-08-13 04:53:10
      8Turner syndrome / CHARGE syndrome / Stickler syndrome / Marshall syndrome / Cockayne syndrome / Waardenburg syndrome / Mucopolysaccharidosis / Marfan syndrome / Aneuploidy / Health / Syndromes / Down syndrome

      Iowa Deafblind Registry New Referral You may SKIP all of pages 5 and 6 (columnsin the light grey font. Deafblind Project staff will include this information based on a review of the IEP. Today’s Date:

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      Source URL: www.iowadeafblind.org

      Language: English - Date: 2015-03-23 17:42:27
      9Rare diseases / Hurler syndrome / Syndromes / Lysosomal storage disease / Mucopolysaccharidosis / Iduronidase / Coarse facial features / Hematopoietic stem cell transplantation / Newborn screening / Health / Medicine / Biology

      Newborn Screening for MPS I: Final Report from the Condition Review Workgroup Alex R. Kemper, MD, MPH, MS February 13, 2015

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      Source URL: www.hrsa.gov

      Language: English
      10Rare diseases / Hurler syndrome / Syndromes / Mucopolysaccharidosis / Newborn screening / Lysosomal storage disease / Iduronidase / Hematopoietic stem cell transplantation / Screening / Medicine / Health / Biology

      Newborn Screening for MPS 1: Interim Report from the Condition Review Workgroup Alex R. Kemper, MD, MPH, MS September 11, 2014

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      Source URL: www.hrsa.gov

      Language: English
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