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Table 1 Baseline characteristics of patients at study entry before enzyme replacement therapy

From: Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

 

Genotype

Age

Gender

Walton score

Assisted ventilation

Patient 1

c.1082C>T (p.Pro361Leu)

c.1309C>T (p.Arg437Cys)

25

M

7

Full day NIV

Patient 2

c.1082C>T (p.Pro361Leu)

c.1309C>T (p.Arg437Cys)

21

M

2

Nil

Patient 3

c.2238G>C (p.Trp746Cys)

c.1935C>A (p.Asp645Glu)

39

F

2

Nocturnal NIV

Patient 4

c.2238G>C (p.Trp746Cys)

c.1935C>A (p.Asp645Glu)

37

F

2.5

Nocturnal NIV

  1. Patients 1 and 2 were brothers, patients 3 and 4 were sisters
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BMC Research Notes

ISSN: 1756-0500

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