… and molecular bases of peroxisomal disorders,12,13 we also examine the relationships
between plasma VLCFA levels and the phenotypes and genotypes of these disorders. …

… affected sisters and their normal mother. The missense mutations were de novo and affect
… found in an individual with features of RTT and incontinentia pigmenti. An 806delG deletion …

… The additional variables confirmed that the categories are essentially distinct and vary …
patients, and it may facilitate further research on homogeneous subgroups of patients and allow …

… (II-6 and II-7), who were examined at 9 and 5½ years of age, showed no purposeful hand
movements, with persistent hand stereotypes and … They had a severe attention deficit and no …

… 2 and 12 years of age and is characterized by difficulties with coordination, speech, and …
disease; her identical twin and another sister were dysarthric and ataxic and had epilepsy. All …

… , dental, and endocrine features, myopia was seen in almost all and short stature in 50%.
Dental and hormonal findings were not invariably present. Mutations in POLR3A and POLR3B …

… , and conventional biochemistry, we generated comprehensive gene expression profiles
of postmortem brain tissue from RTT patients and … Dramatic and consistent decreases in …

… This discovery confirms the value and validity of this MR imaging-… and selective atrophy of
the neostriatum and cerebellum. We reviewed the clinical, MR imaging, MR spectroscopic, and …

… eIF2B is essential in all cells of the body for protein synthesis and the regulation of this … - or
earlyinfantile–onset encephalopathy and an early demise and found mutations in eight of the …

… and 10 age-related controls. The cases were divided into younger (8 years or younger) and
… We found significant reductions in AMPA and NMDA receptor density in the putamen and in …