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Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1977
Ten children have been born to five parents (four female, one male) with cystathionine synthase deficient homocystinuria. All the patients were pyridoxine responsive. The children are well except for one with Down's syndrome. Eight of the 10 children have no homocystine in the blood or urine and must be heterozygotes.
D P, Brenton +4 more
openaire +2 more sources
Ten children have been born to five parents (four female, one male) with cystathionine synthase deficient homocystinuria. All the patients were pyridoxine responsive. The children are well except for one with Down's syndrome. Eight of the 10 children have no homocystine in the blood or urine and must be heterozygotes.
D P, Brenton +4 more
openaire +2 more sources
Proceedings of the Royal Society of Medicine, 1970
E S, Kang, R K, Byers, P S, Gerald
+11 more sources
E S, Kang, R K, Byers, P S, Gerald
+11 more sources
Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete, 1983
It is reported on a female patient with a classical homocystinuria who showed all typical symptoms of the cystathionine-synthesis-insufficiency, such as tall stature, phacetomy, arachnodactyly, kyphoscoliosis, generalized osteoporosis and thromboembolisms.
G, Müller +4 more
openaire +1 more source
It is reported on a female patient with a classical homocystinuria who showed all typical symptoms of the cystathionine-synthesis-insufficiency, such as tall stature, phacetomy, arachnodactyly, kyphoscoliosis, generalized osteoporosis and thromboembolisms.
G, Müller +4 more
openaire +1 more source
Proceedings of the Royal Society of Medicine, 1963
G M, KOMROWER, V K, WILSON
openaire +2 more sources
G M, KOMROWER, V K, WILSON
openaire +2 more sources