Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
24 results
  1. Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1162
    ... Severe MPS I (Hurler syndrome) Attenuated MPS I (Hurler-Scheie syndrome / Scheie syndrome) For synonyms and outdated names see Nomenclature . Diagnosis Suggestive Findings Scenario 1 – Abnormal Newborn Screening (NBS) ...
  2. Findings - Enzyme-Replacement Therapies for Lysosomal Storage Diseases - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK117223
    ... CNS symptoms of MPS I (MPS I, Hurler, Hurler-Scheie, or Scheie syndrome). Two studies (NCT00920647, NCT 01506141) are evaluating intrathecal administration of idursulfase (intravenous) to treat CNS symptoms of MPS II (Hunter’s disease). Guiding Question ...
  3. GNPTAB-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1828
    ... Differential Diagnosis Disorder Gene Clinical Features of Differential Diagnosis Disorder Overlapping w/ML II Distinguishing from ML II Severe mucopolysaccharidosis type I (MPS I; Hurler syndrome) IDUA Coarse features Slowed statural growth Clawed hands ...
  4. Acid mucopolysaccharides 
    https://medlineplus.gov/ency/article/003368.htm
    ... called mucopolysaccharidoses (MPS). These include, Hurler, Scheie, and ... infants who may have a symptom or family history of one of these disorders.
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome ... have no signs or symptoms of the condition at birth, although some have ...
  6. Carbohydrate Metabolism Disorders 
    https://medlineplus.gov/carbohydratemetabolismdisorders.html
    ... is no cure, but treatments may help with symptoms. Specifics Diabetes: MedlinePlus Health Topic ... (National Marrow Donor Program) MPS Diseases (National MPS ...
  7. Fabry Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1292
    ... infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn ... disease frequently occurs before diagnosis and in the absence of other clinical events: ...
  8. Mucopolysaccharidosis type I 
    https://medlineplus.gov/ency/article/001204.htm
    ... Attenuated MPS I; MPS I H; MPS I S; Hurler syndrome; Scheie syndrome; Hurler-Scheie syndrome; MPS 1 H/S; Lysosomal storage disease - mucopolysaccharidosis type ...
  9. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... Saif MW, Takimoto CH. Double take: an intriguing diagnosis. Macroglossia in a patient with recurrent ... S, Tandon S. Hurler syndrome: a case report. J Clin Pediatr Dent. 2000 ...
  10. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... JE. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr. 1995 Mar; 84 (3):337–9. ... infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant. 2002 Aug; 30 ( ...
previous · 1 · 2 · 3 · next