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Twenty-two female carriers of Duchenne muscular dystrophy (DMD) presenting with myopathic symptoms have been examined. Eleven were definite carriers, aged 29 to 79 years, and 11 were possible carriers, aged 4 to 57 years. There was considerable variation in the clinical manifestations and the...
In a pregnancy at risk for Fabry's disease, a prenatal diagnosis could be established 11 days after amniocentesis in the 15th week of pregnancy. This was possible by microchemical analysis of the αgalactosidase activity in isolated groups of 100–200 freeze-dried, cultured amniotic fluid cells....
A disorder is described which involves persistent deciduous teeth and complete lack of eruption of the permanent teeth. An anomaly of the jaw bones leading to impaction of all the permanent teeth seems to be responsible for the observed manifestations. A family is presented with three affected...
Two Mexican-American children of West Texas are described: a brother and sister with a similar pattern of malformation. They have in common a tetrad of Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. Besides these two sibs, who were available for study, it is known that a total...
Five sisters in a Cape Town kindred had the mesomelic dwarfism of Campailla and Martinelli. The consanguinity of their unaffected parents provides evidence to indicate that this entity is inherited as an autosomal recessive.
Changes in the activities of α-galactosidase, β-galactosidase and a-arabinosidase in amniotic fluid cells with time in culture were studied. Marked fluctuations in all three enzymes occurred with passage. In certain cell strains, β-galactosidase showed a marked rise in activity correlated with...
Serum dopamine-β-hydroxylase (DBH) and serum immunoreactive (IR) DBH levels were measured in patients with Down's syndrome. Serum DBH activity was markedly reduced in Down's syndrome patients as compared with age matched, normal controls or non-mongoloid, disturbed children. Serum IR-DBH levels...
Fluctuations in the levels of β-glucuronidase, N-acetyl-βp-D-glucosaminidase, rr-mannosi dase and acid phosphatase in amniotic fluid cells with time in culture were studied. The four enzymes fluctuated markedly with passage; no consistent trends were apparent. The activity of a-mannosidase in...
A family is described in which the incidence of thrombocytopenia suggested transmission by an X-linked gene. The condition carries a good prognosis. Comparison with previous similar reports suggests that the disorder is phenotypically distinct from the Wiskott-Aldrich syndrome.
A member of a large family with retinitis pigmentosa sought genetic counselling. Recessive inheritance could be discounted as highly unlikely but observation of the pedigree failed to distinguish between autosomal dominant inheritance with reduced penetrance, and X-linked recessive inheritance...
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