Results 211 to 220 of about 10,319 (231)
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Pediatrics, 1964
The report of two cases of homocystinuria by Gerritsen and Waisman (Pediatrics, 33: 413, 1964) raises an important clincal point. The two cases reported by myself and others (Arch. Dis. Child., 38: 425, 1963) both had bilaterally dislocated lenses and this abnormality has been present in all other cases seen by us since then.
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The report of two cases of homocystinuria by Gerritsen and Waisman (Pediatrics, 33: 413, 1964) raises an important clincal point. The two cases reported by myself and others (Arch. Dis. Child., 38: 425, 1963) both had bilaterally dislocated lenses and this abnormality has been present in all other cases seen by us since then.
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2005
Abstract Homocystinuria can result from hereditary or acquired enzymatic deficiencies in either the remethylaton pathway of homocysteine to methionine or the trans-sulfuration of homocysteine to cysteine. Homocysteine occupies a central position in methyl metabolism, specifically methyl cycling involving methionine, homocysteine, and ...
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Abstract Homocystinuria can result from hereditary or acquired enzymatic deficiencies in either the remethylaton pathway of homocysteine to methionine or the trans-sulfuration of homocysteine to cysteine. Homocysteine occupies a central position in methyl metabolism, specifically methyl cycling involving methionine, homocysteine, and ...
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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
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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
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Proceedings of the Royal Society of Medicine, 1970
E S, Kang, R K, Byers, P S, Gerald
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E S, Kang, R K, Byers, P S, Gerald
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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
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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
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Proceedings of the Royal Society of Medicine, 1963
G M, KOMROWER, V K, WILSON
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G M, KOMROWER, V K, WILSON
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