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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

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

Fig. 2

IEM detected in the reference center. a Diagnosis made according to biochemical-cellular classification of IEM. Data include diagnosis made in the period 2007–2017. b Organic acidurias diagnosed during the last 10 years. These data correspond to cases detected with typical biochemical profiles detected by GC-MS. AA: Aminoacidopathies; LSD: Lysosomal storage disorders; MCD: Multiple carboxylase deficiency; OA: Organic acidurias; PD: Peroxisomal diseases

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172