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Table 2 Aminoacidopathies detected in the IEIM between 2007 and 2016

From: Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

 

No. Cases

Percentage

NKHG

13

32

MSUD

10

24

UCD

8

20

HPA

7

17

Tyrosinemia

2

5

Homocistinuria

1

2

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172