Results 141 to 150 of about 6,563 (194)
Some of the next articles are maybe not open access.
Archives of Neurology, 1965
From a series of studies on autopsy brains, the concentration of cystathionine has been found to vary in different areas. In the brains of two homocystinuric children, however, the concentration was found to be extremely low in all the areas examined.
H H, White +4 more
openaire +4 more sources
From a series of studies on autopsy brains, the concentration of cystathionine has been found to vary in different areas. In the brains of two homocystinuric children, however, the concentration was found to be extremely low in all the areas examined.
H H, White +4 more
openaire +4 more sources
, 2020 Bakalářská práce se zabývá problematikou onemocnění homocystinurie. Onemocnění je doprovázeno zvýšenou koncentrací homocysteinu, jež má značný vliv na různé buněčné struktury.
William L. Nyhan +3 more
core +3 more sources
Two sisters with generalized dystonia associated with homocystinuria
Movement Disorders, 1991 Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria.
Alfredo Berardelli
exaly +2 more sources
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
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
openaire +2 more sources
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
openaire +2 more sources
Cystathioninuria and homocystinuria
Clinica Chimica Acta, 1975Three circumstances prompted us to reexamine the relationship between abnormal cystathionine accumulation and possible homocystinuria resulting from this condition: (a) discovery of an infant girl with apparently alternating massive cystathioninuria and homocystinuria; (b) the presence of homocystinuria in some, but not all, previously reported cases ...
H L, Levy +3 more
openaire +2 more sources