CLINGEN PEDIATRIC ACTIONABILITY
Update History
Syndrome: Mucopolysaccharidosis type I
Gene/Gene Panel: IDUA
Updated By
Date
Status
Outcome-Interventions
Notes
Kathleen Mittendorf
2018/11/29
Released
1.0.0
Death due to cardiorespiratory failure
Enzyme replacement therapy 8CB
Hematopoietic stem cell transplantation before age 2.5 years 8CB
Severe neurocognitive delay
Enzyme replacement therapy 7AA
Hematopoietic stem cell transplantation before age 2.5 years 8AB
Kathleen Mittendorf
2018/11/14
(In Preparation)
N/A
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