Homocystinuria

Known as: cystathionine synthase deficiency, HCY, Homocystinuria [Disease/Finding] 
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with… (More)
National Institutes of Health

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Highly Cited
2006
Highly Cited
2006
Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B12 (cobalamin… (More)
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Highly Cited
2004
Highly Cited
2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to… (More)
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Highly Cited
2001
Highly Cited
2001
An inborn error of metabolism, homocystinuria due to cystathionine beta-synthase deficiency, results in markedly elevated levels… (More)
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Review
1999
Review
1999
The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS). Deficiency of… (More)
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Highly Cited
1997
Highly Cited
1997
Among 40 patients with homocystinuria due to cystathionine β-synthase deficiency diagnosed in the state of New South Wales… (More)
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Highly Cited
1997
Highly Cited
1997
Severely elevated levels of total homocysteine (approximately millimolar) in the blood typify the childhood disease… (More)
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Highly Cited
1996
Highly Cited
1996
Osteoporosis occurs commonly in homocystinuria. The underlying pathobiochemical mechanism remains unclear; disturbed cross… (More)
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Highly Cited
1975
Highly Cited
1975
Homocystinuria and homocystinemia without hypermthioninemia, but with reccurent episodes of folate responseive schizophrenic-like… (More)
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Highly Cited
1969
Highly Cited
1969
NDiviDuAI with homocystinuria 12 have been found to lack normal activity of the enzyme cystathionine synthetase.3 In many of the… (More)
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Highly Cited
1964
Highly Cited
1964
A deficiency, or absence, of cystathionine synthetase activity has been demonstrated in liver obtained from a mentally retarded… (More)
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