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2021 | 1 |
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An international classification of inherited metabolic disorders (ICIMD).
J Inherit Metab Dis. 2021 Jan;44(1):164-177. doi: 10.1002/jimd.12348.
J Inherit Metab Dis. 2021.
PMID: 33340416
Free PMC article.
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
Goicoechea De Jorge E, Lorda I, Gallardo ME, Pérez B, Peréz De Ferrán C, Mendoza H, Rodríguez De Córdoba S.
Goicoechea De Jorge E, et al. Among authors: perez de ferran c.
J Med Genet. 2002 Jul;39(7):E40. doi: 10.1136/jmg.39.7.e40.
J Med Genet. 2002.
PMID: 12114497
Free PMC article.
No abstract available.
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