Download Advances in Human Genetics 21 by Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.) PDF

By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

The present quantity comprises chapters on peroxisomal problems, genetic facets of melanoma, Gaucher affliction, and different topics.

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1985). At the time of the Evrard et al. , 1975). Table III shows the additional abnormalities that have been identified since then, and one of the challenges for the future is to determine which ones may be responsible for the migrational defect. It is likely that the neuronal migration defect is the principal cause of the seizures, hypotonia, and profound mental retardation associated with the Zellweger syndrome. , 1975). , 1983). , 1981). The liver is enlarged in 78% of patients and fibrotic in 76%.

1984). These data have led to the scheme shown in Figure 7. According to this scheme, peroxisomal proteins are synthesized on free polyribosomes, enter the cytosol,and are transferred posttranslationally into preexisting peroxisomes. Peroxisomes then subdivide by fission or budding. The majority of electron microscopic studies are consonant with this scheme. As reviewed by Lazarow and Fujiki (1985), detailed studies in several laboratories have failed to confirm the earlier reports of continuities between peroxisomes and endoplasmic reticulum.

Adrenal atrophy and the presence of cytoplasmic inclusions characteristic of X-linked ALD (see p. 62) were a surprising finding and led to the name. , 1987a). Hyperpipecolatemia was first described in 1968 by Gatfield et al. (1968) in a boy who died at about 27 months of a neurodegenerative disorder associated with an enlarged liver; a marked excess of pipecolic acid was demonstrated in his body fluids and tissues. , 1988d), including samples from Gatfield's original case. The name infantile phytanic acid storage disease or infantile Refsum disease was assigned in 1982 to three unrelated boys, ages 3-6 years old, who had enlarged livers, dysmorphic features, mental retardation, sensorineural hearing loss, and retinitis pigmentosa.

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