Disease: Histidinemia
- 12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)
- A caliber-persistent artery of the gastric wall resulting in fatal haemorrhage
- A liver urocanase deficiency
- A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia
- Administration of histidine to female rats induces changes in oxidative status in cortex and hippocampus of the offspring
- Altered kinetic properties of skin histidase in two patients with histidinaemia
- Analysis of diagnostic metabolites by capillary electrophoresis-mass spectrometry
- Association study of schizophrenia and the histidase gene
- Biochemical diagnosis and mass screening for hereditary amino acid disorders
- Biochemical investigation of histidinemia in schizophrenic patients
- Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)
- Blood histidine levels during course of histidinaemia
- Case of histidinemia
- Characteristics of murine histidinaemia and its potential for genetic manipulation
- Characterization of L-histidine ammonia-lyase immobilized by microencapsulation in artificial cells: preparation, kinetics, stability, and in vitro depletion of histidine
- Children with autistic behavior in a self-contained unit in the public schools
- Chromatographic screening of 70,328 neonates for inborn errors of amino acid metabolism
- Clinical studies of histidinemia (author's transl)
- Developmental disorders in histidinemia--follow-up study of language development in histidinemia
- Diagnosis of histidinemia through using the determination of urocanic acid in the sweat by an enzymatic method
- Disturbances in histidine metabolism in children with speech abnormalities
- Dual-emissive europium doped UiO-66-based ratiometric light-up biosensor for highly sensitive detection of histidinemia biomarker
- Effect of histidine administration to female rats during pregnancy and lactation on enzymes activity of phosphoryltransfer network in cerebral cortex and hippocampus of the offspring
- Effects of amino acids on zinc transport in rat erythrocytes
- Effects of histidine and imidazolelactic acid on various parameters of the oxidative stress in cerebral cortex of young rats
- Effects of histidine on tissue zinc distribution in rats
- Enzyme activity and the character of metabolic changes in brain tissue in children with phenylketonuria and histidinemia
- Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979
- Evaluation of a state-wide neonatal screening programme
- Evaluation of the usefulness for neonatal mass screening in light of 35 years personal experience
- False positive result of Guthrie inhibition assay for histidinaemia in a patient with phenylketonuria
- Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan
- Formation of N tau-ribosylhistidine, a novel histidine derivative found in the urine in histidinemia, from histidine and NAD(P)+ catalyzed by an NAD(P)+ glycohydrolase system
- Generation and chromosome mapping of expressed sequence tags (ESTs) from a human infant thymus
- Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan
- Geographical variations in inborn errors of metabolism in Japan
- Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines
- Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N tau-methylhistamine, imidazole acetic acid, and its conjugate(s)
- Histidase and histidinemia. Clinical and molecular considerations
- Histidinaemia in Sweden. Report on a neonatal screening programme
- Histidinaemia: a benign metabolic disorder
- Histidinaemia: screening, diagnosis, clinical picture, therapy
- Histidinaemia. Part I: Reconciling retrospective and prospective findings
- Histidinaemia. Part II: Impact; a retrospective study
- Histidinaemia. Part III: Impact; a prospective study
- Histidinemia
- Histidinemia
- Histidinemia and infantile autism
- Histidinemia in mice: a metabolic defect treated using a novel approach to hepatocellular transplantation
- Histidinemia: a biochemical variant or a disease?
- Histidinemia: biochemical parameters for diagnosis
- Histidinemia: biochemistry and behavior
- Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet
- Histidinuria: defective transport of histidine
- Hyperhistaminemia in patients with histidinemia due to increased decarboxylation of histidine
- Hypoplasia of tooth in children with inborn errors of metabolism
- Hypotrichosis, dystrophic onychopathy, and dental abnormalities in a case of histidinemia
- Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10
- In-Syringe Electrokinetic Ampholytes Focusing Coupled with Electrospray Ionization Mass Spectrometry
- Increased sensitivity of histidinemic mice to UVB radiation suggests a crucial role of endogenous urocanic acid in photoprotection
- Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan
- Joubert's syndrome associated with congenital ocular fibrosis and histidinemia
- Lessons from the past--looking to the future. Newborn screening
- Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1
- Long-term follow-up of 58 patients with histidinemia treated with a histidine-restricted diet: no effect of therapy
- Mass screening of neonates for histidinemia
- Maternal histidinaemia: pregnancies and offspring outcomes
- Measurement of the skin urocanic acid content in normal and histidinemic infants
- Mechanism of l-histidine-induced stimulation of amino acid transport in slices of rat cerebral cortex
- Metabolic approaches to the treatment of autism spectrum disorders
- Metabolic correlates of learning disability
- Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene
- Molecular cloning and structural characterization of the human histidase gene (HAL)
- Nano optical probe samarium tetracycline complex for early diagnosis of histidinemia in new born children
- Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening
- Newborn screening in Japan
- Ocular involvement in histidinaemia
- Pharmacokinetics of stable isotopically labeled L-histidine in humans and the assessment of in vivo histidine ammonia lyase activities
- Pleiotropic Nanostructures Built from l-Histidine Show Biologically Relevant Multicatalytic Activities
- Progress in the early detection of inborn errors of metabolism
- Progressive myoclonus and histidinaemia
- Reduced locomotor activity of rats made histidinemic by injection of histidine
- Relationship between skin histidase activity and blood histidine response to histidine intake in patients with histidinemia
- Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977
- Screening of the Westphalia-Lippe newborns of 1977 for phenylketonuria, histidinemia, homocystinuria and maple syrup disease. Furthermore a pilot study of galactosemia and galactokinase deficiency disease
- Serotonin in experimental histidinemia
- Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants
- Speech and language disorders in histidinaemia and other amino acid disturbances
- Speech disorders associated with histidinemia and other hereditary disorders of amino acid metabolism
- Spiropyran-modified upconversion nanocomposite as a fluorescent sensor for diagnosis of histidinemia
- Stable isotope dilution mass spectrometry for the diagnostic study of histidinaemia
- Surface-activated chemical ionization in the analysis of arginine in plasma samples
- The lure of treatment: expanded newborn screening and the curious case of histidinemia
- The Manchester regional screening programme: a 10-year exercise in patient and family care
- The nutritional therapy of histidinemia
- The role of the blood-brain barrier in the aetiology of permanent brain dysfunction in hyperphenylalaninaemia
- The self-assembly of L-histidine might be the cause of histidinemia
- Thin layer chromatographic test for the indirect and direct detection of the enzyme defect in histidinemia
- Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies
- Zinc status of untreated histidinemic children