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Hypophosphatasia Understanding the Disease and Improving Diagnosis

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Presentation on theme: "Hypophosphatasia Understanding the Disease and Improving Diagnosis"— Presentation transcript:

1 Hypophosphatasia Understanding the Disease and Improving Diagnosis

2 Program Goals

3 Patient Case Referral for Premature Tooth Loss

4 Suspicions of HPP

5 Skeletal Survey

6 Radiographs

7 What is HPP?

8 Mechanism of HPP

9 Pathophysiology in Bone

10 Why is Vitamin B6 Elevated? HPP Pathophysiology in the CNS

11 HPP Common Presentation

12 Perinatal HPP

13 Infantile HPP

14 Childhood HPP

15 Adult HPP

16 Odontohypophosphatasia

17 HPP Disease Burden

18 Diagnosis of HPP

19 Diagnosis ALP Levels

20 Diagnosis Vitamin B6/PLP/PPi/PEA Levels

21 HPP Treatment

22 HPP Treatment Challenges

23 HPP Current Treatment: Asfotase Alfa

24 Asfotase Alfa Infantile Phase 2 Trial

25 Infantile Phase 2 Trial Results

26 Infantile Phase 2 Trial Safety

27 Patient Case Follow-up

28 Mortality Rates For Perinatal and Juvenile HPP

29 Asfotase Alfa Perinatal or Juvenile HPP

30 Asfotase Alfa Juvenile Trial

31 Juvenile Trial Results

32 Juvenile Trial Safety

33 Closing Comments

34 Abbreviations


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