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Hawkinsinuria in two families.
- M. Borden, J. Holm, +6 authors C. Scott
- Biology, Medicine
- American journal of medical genetics
- 1 September 1992
Hawkinsinuria, a disorder of tyrosine metabolism has been documented in two families in the United States, in one of which there was clear evidence of autosomal dominant inheritance. Metabolic… Expand
Histidase Activity in Cultivated Human Amniotic Fluid Cells
Epithelial and fibroblast cells obtained from cultures of amniotic fluid cells demonstrated high activities of histidase, and histid enzyme activity was not detected in fibroblasts derived from the same original culture. Expand
Role of amniocentesis in the intrauterine detection of genetic disorders.
Cultivation of amniotic-fluid cells obtained by transabdominal amniocentesis early in the second trimester of pregnancy provides a method that enables parents at "high risk" for having offspring with certain serious genetic disorders to have children without risk of such a defect. Expand
Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls.
N-Lauroylsphingosine, towards which acid ceramidase activity in control fibroblasts was about 10 times higher than that towards N-oleoylsphingoine, may serve as a better substrate for enzymic diagnosis of Farber disease as well as for further characterization of the catalytically defective acid cer amidase. Expand
Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome.
- E. Shapira, R. Degregorio, R. Matalon, H. Nadler
- Biology, Medicine
- Biochemical and biophysical research…
- 20 January 1975
A mutant arylsulfatase B form is described in skin fibroblasts from a patient with Maroteaux-Lamy syndrome that has a markedly reduced (15%) specific activity. Expand
Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.
Alpha-1,4 glucosidase activity in Pompe's disease.
The enzyme in amniotic fluid and kidney differs from the enzyme found in the other tissues in several properties, including pH optimum and inhibition by turanose, and cannot be used for the in utero diagnosis of Pompe's disease. Expand
Mandibulo-facial dysostosis. (Treacher-Collins syndrome).
The classical signs of mandibulo-facial dysostosis include the following: lack of development of the auricle, which may be associated with atresia of the external auditory canal, deformed middle-ear ossicles, and congenital hearing loss. Expand
Metabolic and biochemical studies in fructose 1,6-diphosphatase deficiency.
A 9-month-old girl with recurrent episodes of hypoglycemia, metabolic acidosis, and hepatomegaly was identified as having fructose 1, 6-diphosphatase deficiency on the basis of absence of activity of… Expand