Add to ORKGdisorder – Tyrosine hydroxylase Abstract: Tyrosine hydroxylase deficiency manifests mainly in early childhood and includes two clinical phenotypes: an infantile progressive hypokinetic-rigid syndrome with dystonia (type A) and a neonatal complex encephalopathy (type B). The biochemical diagnostics is exclusively based on the quantitative determination of the neurotransmitters or their metabolites in cerebrospinal fluid (CSF). The implementation of neurotransmitter analysis in clinical praxis is necessary for early diagnosis and adequate treatment. Neurotransmitter metabolites in CSF were analyzed in 82 children (at the age 1 month to 17 years) with clinical suspicion for neurometabolic disorders using high performance liquid chromatography ...
We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor develo...
We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor develo...
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidne...
Tyrosine hydroxylase deficiency manifests mainly in early childhood and includes two clinical phenot...
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catechola...
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catechola...
textabstractTyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebr...
We report the biochemical hallmarks of tyrosine hydrox-ylase deficiency with emphasis on reliable di...
Background Biogenic amines and pterins analysis in cerebrospinal fluid (CSF) are reliable biomarker...
Tyrosine hydroxylase deficiency was diagnosed after determination of cerebrospinal fluid neurotransm...
Item does not contain fulltextTyrosine hydroxylase (TH) is the key enzyme in the biosynthesis of the...
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive disorder mapped to chromosome 11p...
Item does not contain fulltextInborn errors of catecholamine biosynthesis are rare but of great inte...
Objectives To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmi...
Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmissi...
We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor develo...
We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor develo...
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidne...
Tyrosine hydroxylase deficiency manifests mainly in early childhood and includes two clinical phenot...
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catechola...
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catechola...
textabstractTyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebr...
We report the biochemical hallmarks of tyrosine hydrox-ylase deficiency with emphasis on reliable di...
Background Biogenic amines and pterins analysis in cerebrospinal fluid (CSF) are reliable biomarker...
Tyrosine hydroxylase deficiency was diagnosed after determination of cerebrospinal fluid neurotransm...
Item does not contain fulltextTyrosine hydroxylase (TH) is the key enzyme in the biosynthesis of the...
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive disorder mapped to chromosome 11p...
Item does not contain fulltextInborn errors of catecholamine biosynthesis are rare but of great inte...
Objectives To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmi...
Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmissi...
We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor develo...
We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor develo...
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidne...