COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE
COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE
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Author / Creator
Öztürk, Z , Arhan, E , Aydin, K , Hirfanoğlu, T , Tümer, L , Okur, I , Serdaroğlu, A , Akbaş, Y and Karaoğlu, B
Publisher
Switzerland: Éditions Médecine et Hygiène
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: Éditions Médecine et Hygiène
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Scope and Contents
Contents
Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem inv...
Alternative Titles
Full title
COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE
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Author / Creator
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Record Identifier
TN_cdi_proquest_miscellaneous_2102920238
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2102920238
Other Identifiers
ISSN
1015-8146
