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Description
It is important to identify the underlying cause in each patient and to monitor the different degrees of catabolism, in order to choose the best treatment and achieve an adequate balance of proteins and nutrients

SODsuperoxide dismutase

Other anomalies observed include visual defects (63%), cardiac defects (51%), constipation (51%), frequent infections (47%), behavioural problems (39%), sleep disturbances (37%), and microcephaly (31%) (Kennedy et al, 2019)

Ultrasound of the optic nerve sheath showed measures within the expected limits

& Pan, D
