Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and o...
Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies
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Singapore: Springer Nature Singapore
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Language
English
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Singapore: Springer Nature Singapore
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Contents
Although there are many types of inborn errors of metabolism (IEMs) affecting the central nervous system, also referred to as neurometabolic disorders, individual cases are rare, and their diagnosis is often challenging. However, early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurological impairment or death. The c...
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Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies
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TN_cdi_proquest_journals_2890339976
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2890339976
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ISSN
1867-1071,1867-108X
E-ISSN
1867-108X
DOI
10.1007/s11604-023-01396-0
