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Description
Homocystinuria, an inborn error of metabolism, was identified in 1962 when individuals with mental retardation were screened for abnormal urinary amino acid patterns (9)
Imaging modalities such as three-phase bone scintigraphy and positron emission tomography are limited to late-stage diagnosis when infection is already well established 277
See Supplementary Note for rationale of using U46C GPX4
Brainstem and pontine dysplasia are rare phenotypes, with less than five patients reported [25]
N.PatilB
Lancet 1996
