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Patient case report | Main data
Patient ID 1092
Diagnosis ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450)
Gender m
Age of symptoms onset
Age of diagnosis 8.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: Caucasian
History The patient was found in the expanded newborn screening program with elevated levels of octanoylcarnitine. Start of treatment in the second week of life. The patient is the younger brother of patient ID 1019.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2011-11-18 10:51:20
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