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5 results

  1. ... Milunsky, eds. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 8 ed. Hoboken, NJ: Wiley-Blackwell; 2021:chap. 23. Clarke LA, Dickson P, Ellinwood NM, Klein TL. Newborn screening for mucopolysaccharidosis I: moving forward learning from experience. Int J Neonatal ...
  2. ... 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 ( ...
  3. ... disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I- ... related-gene></related-gene-list><synonym-list ><synonym >Hurler syndrome</synonym><synonym >Hurler-Scheie syndrome</synonym><synonym >IDUA ...
  4. ... 1. [ PubMed : 10934114 ] 709. Thomas S, Tandon S. Hurler syndrome: a case report. J Clin Pediatr Dent. 2000 ... J, et al. Folate intake and the primary prevention of non-neural birth defects. Aust N Z ...
  5. ... is the preservation of neurocognitive function and the prevention of early death. As such, HSCT should be ... of family and ancestry, untreated individuals have typical Hurler-like facies (see ... psychiatric syndrome did not reveal an underlying organic cause. Bone ...