Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASST) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1
Item does not contain fulltextIn a patient with microcephaly, feeding problems and restlessness, mod...
Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosucci...
Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle caused by mutations i...
Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutati...
OBJECTIVES: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutati...
Haberle, Johannes/0000-0003-0635-091XWOS: 000406086600009PubMed: 28132756Objectives: Citrullinemia t...
A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic...
Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the defici...
Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate sy...
Background: Argininosuccinate synthetase deficiency (citrullinemia type 1) is a rare autosomal reces...
Citrullinemia is a rare genetic disorder that affects the metabolism of the amino acid arginine. It ...
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the arginino...
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the arginino...
Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation...
In a patient with microcephaly, feeding problems and restlessness, moderately increased serum and ur...
Item does not contain fulltextIn a patient with microcephaly, feeding problems and restlessness, mod...
Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosucci...
Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle caused by mutations i...
Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutati...
OBJECTIVES: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutati...
Haberle, Johannes/0000-0003-0635-091XWOS: 000406086600009PubMed: 28132756Objectives: Citrullinemia t...
A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic...
Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the defici...
Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate sy...
Background: Argininosuccinate synthetase deficiency (citrullinemia type 1) is a rare autosomal reces...
Citrullinemia is a rare genetic disorder that affects the metabolism of the amino acid arginine. It ...
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the arginino...
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the arginino...
Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation...
In a patient with microcephaly, feeding problems and restlessness, moderately increased serum and ur...
Item does not contain fulltextIn a patient with microcephaly, feeding problems and restlessness, mod...
Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosucci...
Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle caused by mutations i...
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