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Homocystinuria
Known as:
cystathionine synthase deficiency
, HCY
, Homocystinuria [Disease/Finding]
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Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with…
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National Institutes of Health
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Related topics
Related topics
28 relations
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
Betaine
Betaine Hydrochloride
Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom
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Broader (3)
Amino Acid Metabolism, Inborn Errors
Enzyme Deficiency
Mental Retardation
Narrower (2)
Methylmalonic acidemia with homocystinuria
Mthfr Deficiency, Thermolabile Type
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
[Association of paraoxonase polymorphisms and serum homocysteine thiolactone complex with coronary heart disease].
Qin Qin
,
Ying-li Li
,
+4 authors
Bing-rang Zhao
Zhonghua xin xue guan bing za zhi
2006
Corpus ID: 45063700
OBJECTIVE To investigate the relationship between paraoxonase (PON) polymorphisms and serum homocysteine thiolactone (HTL) and…
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1982
1982
Homocystinuria: clinical and biochemical heterogeneity
N. A. Carson
1982
Corpus ID: 68744931
Some years ago it appeared to those of us interested in inherited metabolic disorders that a characteristic clinical and…
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1981
1981
Effect of chronologic age on induction of cystathionine synthase, uroporphyrinogen I synthase, and glucose-6-phosphate dehydrogenase activities in lymphocytes.
S. Gartler
,
S. Hornung
,
A. Motulsky
Proceedings of the National Academy of Sciences…
1981
Corpus ID: 32801930
The activities of cystathionine synthase [L-serine hydro-lyase (adding homocysteine), EC 4.2.1.22], uroporphyrinogen I synthase…
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1980
1980
Homocystinuria and Other Methioninemias
D. Pullon
1980
Corpus ID: 69137975
Homocystinuria due to cystathionine synthase deficiency has been quoted as having a frequency of 1 : 50 000 to 1 : 150 000 of the…
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1977
1977
The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria.
R. Griffiths
,
Norman Tudball
European Journal of Biochemistry
1977
Corpus ID: 23024512
1. Cystathionine beta-synthase activity isolated from fibroblast cultures obtained from the skin of a normal and a homocystinuric…
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1977
1977
Detection of homozygotes and heterozygotes with methylenetetrahydrofolate reductase deficiency.
P. Wong
,
P. Justice
,
S. Berlow
Journal of Laboratory and Clinical Medicine
1977
Corpus ID: 39738282
Specific enzyme assay is required for the diagnosis of homocystinuria due to methylenetetrahydrofolate reductase deficiency. A…
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1976
1976
The Eye and Inborn Errors of Metabolism
F. Judisch
1976
Corpus ID: 72866719
The Eye and Inborn Errors of Metabolism is another in the Birth Defects series sponsored by the National Foundation—March of…
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1970
1970
A Case of Homocystinuria with a Dystonic Neurological Syndrome
B. Hagberg
,
L. Hambraeus
,
K. Bensch
Neuropadiatrie
1970
Corpus ID: 35246875
.
1969
1969
Ocular Defects Associated with Homocystinuria
George D. Presley
,
Iva N. Stinson
,
J. Sidbury
Southern medical journal (Birmingham, Ala. Print)
1969
Corpus ID: 7249899
In this study ocular defects outnumbered mental defects. This may represent bias in selection because of the source of a goodly…
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Highly Cited
1965
Highly Cited
1965
HOMOCYSTINURIA. BIOCHEMICAL STUDIES OF TISSUES INCLUDING A COMPARISON WITH CYSTATHIONINURIA.
D. Brenton
,
D. C. Cusworth
,
G. Gaull
Pediatrics
1965
Corpus ID: 28705884
From a series of studies on autopsy brains, the concentration of cystathionine has been found to vary in different areas. In the…
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