- ... Severe MPS I (Hurler syndrome) Attenuated MPS I (Hurler-Scheie syndrome / Scheie syndrome) For synonyms and outdated names see Nomenclature .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) ...
- ... 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 ...
- ... We have several patients in whom the differential diagnosis between the Hurler syndrome and Morquio's syndrome is uncertain on clinical grounds. ...
- ... 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 ...
- NLM Digital Collections - MEDLARS indexing : integrated authority filePublication: [Bethesda, Md.] : National Library of Medicine, Bibliographic Services Division, 1968... IM) (68) mucopolysaccharidosis I syn. Hurler's disease; Pfaundler-Hurler syndrome a systemic entity marked by progressive phusical and mental deterioration lead- ing to death before the age of ten years. Symptoms include lumbar glbbus, stiff joints, and rhinitis. Mental ...
- ... called mucopolysaccharidoses (MPS). These include, Hurler, Scheie, and ... infants who may have a symptom or family history of one of these disorders.
- ... three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome ... have no signs or symptoms of the condition at birth, although some have ...
- ... is no cure, but treatments may help with symptoms. Specifics Diabetes: MedlinePlus Health Topic ... (National Marrow Donor Program) MPS Diseases (National MPS ...
- ... 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 ...
- ... 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: ...
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