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- W1970367066 abstract "Amino acid disturbances of unknown or little known importance occur in several clinically definable syndromes. In several of them the amino acid disturbance is not stated conclusively because of methodological reasons.A disturbed amino acid metabolism has been described in connection withthe following ‘skin diseases’: Sjögren-Larsson syndrome, Netherton syndrome, congenital ichthyosis with atrophy and mental retardation, ichthyosis vulgaris, keratosis follicularis spinulosa decalvans, hydroa vacciniforme, xeroderma pigmentosum, De Barsy syndrome, hydroxylysine-deficient collagen disease; and in the following ‘bone diseases’: hereditary hyperphosphatasia, hypophosphataemic rickets, lathyrism-like syndrome, osteogenesis imperfecta, secondary hyperparathyroidism, polyostotic fibrous dysplasia, marble bone disease; in one `disease of the blood': Blackfan-Diamond anaemia; in some ‘diseases of the muscles’: Duchenne's muscular dystrophy, dystrophy of the benign infantile pelvic X-chromosomal-recessive type (Becker), autosomal-recessive limb-girdle type of dystrophy (Leyden), juvenile facio-scapulo-humeral autosomal-dominant type of dystrophy (Erb-Landouzy), myotonia dystrophica, mitochondrial myopathies and some non-classified myopathies; in some ‘diseases of the eye’: gyrate atrophy of the choroid and retina, hereditary macular degeneration, Lowe syndrome; and in several miscellaneous diseases: Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, cerebral gigantism, familial amyloidotic polyneuropathy, ataxia telangiectasia, chorea Huntington, parkinsonism, camptodactyly, and Kugelberg-Welander syndrome. The described changes are discussed." @default.
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- W1970367066 date "1972-01-01" @default.
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- W1970367066 title "Abnormal levels of aspartic acid, serine and cystine in the plasma in three cases of of Rubinstein Taybi's syndrome" @default.
- W1970367066 doi "https://doi.org/10.1016/0009-8981(72)90196-9" @default.
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