- ... Severe MPS I (Hurler syndrome) Attenuated MPS I (Hurler-Scheie syndrome / Scheie syndrome) For synonyms and outdated names see Nomenclature . Diagnosis Suggestive Findings Mucopolysaccharidosis type I (MPS I) should ...
- ... 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 ...
- ... but they typically do not show signs and symptoms of the condition. Other Names for This Condition Hurler syndrome Hurler-Scheie syndrome IDUA deficiency MPS I MPS ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- Resource Bibliography - Enzyme-Replacement Therapies for Lysosomal Storage Diseases - NCBI Bookshelf... in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med. 2005 Feb; 7 (2):143–6. [ ... of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis. 2007 Oct; 30 (5): ...
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