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Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report. [PDF]
CureusSalah Alkooheji A +4 more
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Acute Cerebral Infarction Secondary to Spontaneous Isolated Middle Cerebral Artery Dissection: A Case Report. [PDF]
CureusTakada Y +4 more
europepmc +1 more source
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The American Journal of the Medical Sciences, 1977
Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. It is inherited as an autosomal recessive trait with a worldwide distribution.
J A, Vázquez García +4 more
openaire +4 more sources
Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. It is inherited as an autosomal recessive trait with a worldwide distribution.
J A, Vázquez García +4 more
openaire +4 more sources
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.
openaire +1 more source
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.
openaire +1 more source
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 ...
openaire +2 more sources