Skip to search formSkip to main contentSkip to account menu

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… 
National Institutes of Health

Related topics

Related topics

28 relations
5-Methyltetrahydrofolate-Homocysteine S-MethyltransferaseBetaineBetaine HydrochlorideConditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom

Broader (3)

Amino Acid Metabolism, Inborn ErrorsEnzyme DeficiencyMental Retardation

Narrower (2)

Methylmalonic acidemia with homocystinuriaMthfr Deficiency, Thermolabile Type

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
The influence of homocysteine levels on endothelial function and their relation with microvascular complications in T2DM patients without macrovascular disease
The aim of this study was to investigate the influence of homocysteine (hcy) levels on endothelial function by the method of… 
1978
1978
Abdominal aortic aneurysm in homocystinuria.
The first reported case of abdominal aortic aneurysm complicating homocystinuria is presented. The clinical features and… 
1977
1977
The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria.
1. Cystathionine beta-synthase activity isolated from fibroblast cultures obtained from the skin of a normal and a homocystinuric… 
1974
1974
"Fish vertebrae," homocystinuria, and sickle cell anemia.
HUMAN vertebrae occasionally resemble fish vertebrae in that a concave depression is present on the upper and lower surfaces of… 
1971
1971
Detection of heterozygotes for homocystinuria by oral loading with L-methionine
constructed from silicon semiconducter strain gauge, which has a linear response from DC to 1000 c.p.s. Its applications are… 
1970
1970
A Case of Homocystinuria with a Dystonic Neurological Syndrome
. 
1968
1968
Homocystinuria as Affected by Pyridoxine, Folic Acid, and Vitamin B12 ∗
Summary and Conclusions Administration of pyridoxine to the four children with homocystinuria who had been on a diet low in… 
1968
1968
Homocystinuria: a study with low-methionine diet in three patients.
an autosomal recessive. The clinical picture of malar flush, dislocated eye lenses, mental retardation, osteoporosis, various… 
1967
1967
Roentgen findings in homocystinuria.
1. The roentgen findings in 3 cases of homocystinuria are described and compared with 71 other cases in the literature.2… 
Highly Cited
1965
Highly Cited
1965
HOMOCYSTINURIA. BIOCHEMICAL STUDIES OF TISSUES INCLUDING A COMPARISON WITH CYSTATHIONINURIA.
From a series of studies on autopsy brains, the concentration of cystathionine has been found to vary in different areas. In the…