Results 111 to 120 of about 4,948 (165)
Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]
Genes (Basel)Hergenrother S +4 more
europepmc +1 more source
Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type. [PDF]
HeliyonMondesert E +8 more
europepmc +1 more source
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2017
Abstract This chapter discusses homocystinuria, including diagnosis, clinical abnormalities, treatment, and follow-up care.
Rani H. Singh, Teresa D. Douglas
exaly +2 more sources
Abstract This chapter discusses homocystinuria, including diagnosis, clinical abnormalities, treatment, and follow-up care.
Rani H. Singh, Teresa D. Douglas
exaly +2 more sources
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
+6 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
+6 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
BJOG: An International Journal of Obstetrics & Gynaecology, 1973
SummaryPregnancy in a pyridoxine responsive homocystinuric patient is described and the main hazards are enumerated and discussed.
J W, Ritchie, N A, Carson
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SummaryPregnancy in a pyridoxine responsive homocystinuric patient is described and the main hazards are enumerated and discussed.
J W, Ritchie, N A, Carson
openaire +2 more sources