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2017
Inborn errors of metabolism (IEMs) are a group of genetic disorders characterized by biochemical function abnormalities. Early diagnosis leads to early initiation of treatment and a significant decrease in morbidity and mortality. Infants and toddlers with inborn errors of metabolism may be candidates for hematopoietic stem cell transplantation (HSCT),
Allison L. Goetsch +2 more
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Inborn errors of metabolism (IEMs) are a group of genetic disorders characterized by biochemical function abnormalities. Early diagnosis leads to early initiation of treatment and a significant decrease in morbidity and mortality. Infants and toddlers with inborn errors of metabolism may be candidates for hematopoietic stem cell transplantation (HSCT),
Allison L. Goetsch +2 more
openaire +3 more sources
Inborn Errors of Metabolism [PDF]
, 1983 O’Brien has described the progress made in identifying lipid storage diseases as “enzymes to prevention.” (O’Brien, 1973). The lipid-storage diseases, called “lipidoses,” have been known since 1881 when Warren Tay, a British opthalmologist, together with Bernard Sachs, described a disease associated with the decline and finally arrest of cerebral ...
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