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L.MishraN.CheX.LeeB.BatemanL.et al

Gastroenterology 158(7):1999-2014.e1

Patients with isolated LCHAD deficiency or generalized MTP deficiency share most of the clinical signs and symptoms with other lcFAODs, but are the only lcFAOD in which patients can develop peripheral neuropathy and pigmentary retinopathy [23,24,25, 62, 126,127,128]