CLINGEN PEDIATRIC ACTIONABILITY
Update History
Syndrome: Hypophosphatasia
Gene/Gene Panel: ALPL
Updated By
Date
Status
Outcome-Interventions
Notes
Genboree Administrator Account
2018/11/01
Released
1.0.2
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates 4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
Enzyme Replacement Therapy 10CC
Rickets/fractures
Enzyme Replacement Therapy 7CC
Internal system migration related to score text replacement from E to N
Kathleen Mittendorf
2018/10/05
Released
1.0.1
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates 4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
Enzyme Replacement Therapy 10CC
Rickets/fractures
Enzyme Replacement Therapy 7CC
Kathleen Mittendorf
2018/10/05
Released
1.0.0
(Under Revision)
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates 4DD
Respiratory failure that can lead to long-term ventilatory support or death
Enzyme Replacement Therapy 10CC
Rickets/fractures
Enzyme Replacement Therapy 7CC
Kathleen Mittendorf
2018/09/10
(In Preparation)
N/A
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