Abstract and poster presentations

Identifieur interne : 000286 ( Psycho/Analysis ); précédent : 000285; suivant : 000287

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Abstract and poster presentations

Auteurs :

Source :

• Journal of Inherited Metabolic Disease [ 0141-8955 ] ; 1996-01-01.

RBID : ISTEX:DEDF2A418C39C3B692953AE956F0C335BAB17412

English descriptors

• Teeft :
  • Aact, Aarhus, Abnormal, Abnormality, Acid, Acid analysis, Acid oxidation, Acidaemia, Acidemia, Acidosis, Aciduria, Acyl, Acylcarnitine, Acylcarnitines, Adenylosuccinate, Adenylosuccinate lyase, Aghia sophia, Allele, Allopurinol, Amino, Amino acid ratios, Amino acids, Aminoacids, Ammonia, Amsterdam, Anaemia, Antioxidant, Arginine, Asase, Assay, Athens university, Atpase, Autosomal, Barcelona, Basal, Basal ganglia, Bile acids, Biochemical, Biochemistry, Biopsy, Bioquimica clinica, Blood cells, Blood spots, Bone marrow, Camitine, Cape town, Carbohydrate, Carboxylase, Cardiac, Cardiomyopathy, Cardiovascular, Cardiovascular disease, Carnitine, Carrier detection, Cdna, Cell lines, Centre, Charles university, Chemical pathology, Child health, Chromosome, Citrate, Clin, Clinical chemistry, Clinical examination, Clinical genetics, Clinical presentation, Clinical symptoms, Cobalamin, Codon, Complementation, Concerted action, Consanguineous, Consanguineous parents, Creat, Creatinine, Cultured, Cultured fibroblasts, Cultured skin fibroblasts, Cyprus, Cystathionine, Cytochrome, Czech, Defect, Deficiency, Deficient activity, Dehydrogenase, Dehydrogenase deficiency, Deletion, Depts, Developmental delay, Diagnosis, Different point mutations, Dihydropyrimidine, Dihydropyrimidine dehydrogenase, Disorder, Dysfunction, Early diagnosis, Encephalopathy, Energy metabolism, Enzyme, Enzyme activity, Epilepsy, Erndim, Erythrocyte, Ester, Ethylmalonic, Ethylmalonic aciduria, Excretion, Exon, Fasting, Fatty acid, Fatty acids, Fetus, Fibroblast, First child, First time, Folate, Folic, Folic acid, Further studies, Galactosaemia, Galactosemia, Galactosemic, Ganglion, Gangliosidosis, Gene, Genetic defects, Genetics, Genetics unit, Genomic, Genotype, Gestation, Glucose, Glutamate, Glutamate receptors, Glutamine, Glutaric, Glutaric aciduria type, Glycine, Glycogen, Glycogen storage disease type, Glycoprotein, Gregersen, Groote schuur hospital, Growth retardation, Hcys, Hepatic, Hepatocytes, Hepatomegaly, Heterogeneity, Heterozygosity, Heterozygote, High concentrations, High levels, Homocysteine, Homocystinuria, Homozygosity, Hplc, Hprt, Human genetics, Human liver, Hyperammonemia, Hyperhomocysteinemia, Hypoglycaemia, Hypoglycemia, Hypoketotic, Hypotonia, Impairment, Inborn, Inborn errors, Independent risk factor, Inher, Inher metab, Lactate, Lactic, Lactic acidosis, Lchad, Lchad deficiency, Leucine, Lhon, Lipid, Liver biopsy, Liver failure, Lnher, Long chain, Lymphoblast, Lymphocyte, Lysine, Lysinuric, Lysinuric protein intolerance, Lysosomal, Mcad, Median, Medical center, Megaloblastic, Memorial health institute, Mental retardation, Metab, Metabolic, Metabolic acidosis, Metabolic disease, Metabolic diseases, Metabolic disorders, Metabolism, Methionine, Methylmalonic, Methylmalonic acid, Methylmalonic acidaemia, Missense, Missense mutations, Mitochondrial, Molecular basis, Mtdna, Mtdna depletion, Mthfr, Mutation, Mutation analysis, Neonatal, Neonatal period, Neonatal screening, Netherlands, Neurological, Neurological deficits, Neurology, Nijmegen, Norm ranges, Normal range, Normal values, Organic acid analysis, Organic acids, Organic acidurias, Orotic, Orotic acid, Other patients, Oxidase, Paediatrics, Palmitate, Pathway, Pediatrics, Peroxisomal, Peroxisomal disorders, Peroxisomes, Phenotype, Phenylalanine, Phytanic, Phytanic acid, Placenta, Plasma, Plasma cholesterol, Plasma phenylalanine concentrations, Plasma tyrosine, Platelet, Polymorphism, Porphobilinogen, Porphyria, Porphyrin, Post mortem, Prenatal, Prenatal diagnosis, Present study, Pristanic, Pristanic acid, Propionic, Psychomotor, Psychomotor development, Purine, Pyrimidine, Pyruvate, Quantitative analysis, Receptor, Recessive, Reductase, Reference intervals, Renal, Renal function, Residual, Residual activity, Risk factor, Royal manchester hospital, Scad, Scad deficiency, Scad gene, Screening, Second child, Second patient, Selective screening, Sequencing, Serine, Severity score, Sheffield, Sheffield hospital, Short stature, Sibling, Simple method, Skeletal muscle, Skin fibroblasts, Spectrometry, Ssadh, Ssadh deficiency, Stickler syndrome, Subgroup, Subunit, Suppl, Supplementation, Symptom, Syndrome, Synthase, Synthetase, Tandem, Tandem mass spectrometry, Thcy, Thermolabile, Thiamine, Thymine, Total plasma homocysteine, Tyrosinaemia type, Tyrosine, Ultrasound, Univ, University hospital, University hospital amsterdam, University hospital nijmegen, Uracil, Urea, Urea cycle, Urinary, Urinary excretion, Urine, Urine samples, Utrecht, Variable deletions, Villus, Vlcad, Vlcad deficiency, Vlcfa, Weeks gestation, Wilhelmina kinderziekenhuis, Zellweger, Zellweger syndrome.

Url:

• https://api.istex.fr/ark:/67375/1BB-JDZ37S5B-M/fulltext.pdf

DOI: 10.1007/BF02266915

Affiliations:

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