Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia

Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia

Item
http://www.wikidata.org/entity/Q28271037
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type ICloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type IHereditary tyrosinemia of chronic course without rickets and renal tubular dysfunction.Current strategies for the treatment of hereditary tyrosinemia type I.Insight on the impacts of free amino acids and their metabolites on the immune system from a perspective of inborn errors of amino acid metabolism.MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring.Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.Liver transplantation in tyrosinaemia type 1: the dilemma of timing the operation.Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.
P2860

Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia

Item
http://www.wikidata.org/entity/Q28271037
description
1983 nî lūn-bûn
@nan
1983 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年学术文章
@wuu
1983年学术文章
@zh-cn
1983年学术文章
@zh-hans
1983年学术文章
@zh-my
1983年学术文章
@zh-sg
1983年學術文章
@yue
name
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@ast
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@en
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@nl
type
label
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@ast
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@en
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@nl
prefLabel
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@ast
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@en
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P577
P5875
P6179
P698
P356
P1433
P1476
Deficient fumarylacetoacetate ...... ts with hereditary tyrosinemia
@en
P2093
P2888
P304
P31
P356
10.1203/00006450-198307000-00005
P407
P433
P478
P577
P5875
P6179
P698