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Description
IHD : 20-50% dialyzable
There is a broad clinical spectrum, but the proportion of patients with a severe clinical presentation and who are refractory to treatment - despite early detection by NBS - is larger than seen in VLCAD deficiency [62, 131]
A month later, he experienced loss of strength and involuntary movement of his left lower leg, accompanied by alteration in speech with incomplete and paraphasic sentences, anorexia and unintentional weight loss of 5kg
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