Subject(s)

Air Pollutants, Radioactive/analysis , Air Pollutants/analysis , Argon/analysis , Taiwan , Thermoluminescent Dosimetry , Wind

Subject(s)

Lectins/pharmacology , Leukemia, Lymphoid/blood , Lymphocytes/drug effects , Polyribosomes/drug effects , Amino Acids/metabolism , Blood Proteins/biosynthesis , Carbon Isotopes , Cell Fractionation , Centrifugation, Density Gradient , Edetic Acid/pharmacology , Hemolysis , Humans , In Vitro Techniques , Leukocyte Count , Polyribosomes/metabolism , Puromycin/pharmacology , Receptors, Drug , Ribonucleases/pharmacology , Spectrum Analysis , Stimulation, Chemical

Subject(s)

Genetics, Medical , Lymphocytes , Cell Division , Cell Line , Cells, Cultured , Humans , Methods , Time Factors

Subject(s)

Amniocentesis , Galactosemias/diagnosis , Child , Erythrocytes/enzymology , Eye Manifestations , Female , Fibroblasts/enzymology , Galactosemias/blood , Galactosemias/enzymology , Galactosemias/genetics , Heterozygote , Homozygote , Humans , In Vitro Techniques , Leukocytes , Nucleotidyltransferases/analysis , Nucleotidyltransferases/blood , Pedigree , Pregnancy , Time Factors

Subject(s)

De Lange Syndrome/enzymology , Erythrocytes/enzymology , Leukocytes/enzymology , Acid Phosphatase/blood , Alkaline Phosphatase/blood , Galactose , Glucosephosphate Dehydrogenase/blood , Humans , Methods , Nucleotidyltransferases/blood , Uridine

Subject(s)

Down Syndrome/genetics , Sex Chromosomes , Trisomy , Adult , Female , Humans , Intelligence , Mouth Mucosa/cytology , Sex Chromatin

Subject(s)

Diet Therapy , Maple Syrup Urine Disease , Thiamine/therapeutic use , Adult , Animals , Carboxy-Lyases/analysis , Child, Preschool , Female , Fibroblasts/enzymology , Humans , Infant , Infant, Newborn , Isoleucine , Leucine , Leukocytes/enzymology , Male , Maple Syrup Urine Disease/diagnosis , Maple Syrup Urine Disease/drug therapy , Milk , Neurologic Manifestations , Pregnancy , Thiamine/adverse effects , Valine

Subject(s)

Clinical Enzyme Tests , Leukocytes/enzymology , Metabolism, Inborn Errors/diagnosis , Acid Phosphatase/blood , Evaluation Studies as Topic , Genetic Diseases, Inborn/diagnosis , Glucosidases/blood , Hemagglutination Tests , Heterozygote , Homozygote , Humans , Lectins/pharmacology , Leukocytes/drug effects , Lymphocytes/enzymology , Metabolism, Inborn Errors/blood , Methods , Neutrophils/enzymology , Nitrogen , Pressure , Stimulation, Chemical

Subject(s)

Amino Acid Metabolism, Inborn Errors , Cells, Cultured , Clone Cells , Culture Techniques , Female , Fibroblasts , Galactosemias/diagnosis , Genes, Recessive , Heterozygote , Humans , Infant, Newborn , Infant, Newborn, Diseases , Male , Mucopolysaccharidoses/diagnosis , Phenylalanine/blood , Phenylketonurias/diagnosis , Sex Factors

Subject(s)

Fibroblasts/enzymology , Hydrocortisone/pharmacology , Ligases/metabolism , Metabolism, Inborn Errors/enzymology , Propionates/blood , Skin/enzymology , Carbon Dioxide , Culture Techniques , Enzyme Activation , Humans , Puromycin/pharmacology

Subject(s)

Glutamine/blood , Phenylketonurias/blood , Autoanalysis , Chromatography, Ion Exchange , Fluorometry , Humans , Intellectual Disability/complications , Phenylalanine/blood , Phenylketonurias/complications , Phenylketonurias/therapy

Subject(s)

Acid Phosphatase/analysis , Aspartate Aminotransferases/analysis , Blood Platelets/enzymology , DNA/biosynthesis

Subject(s)

Phenylketonurias/epidemiology , Sex Ratio , Female , Humans , Infant, Newborn , Male , Phenylalanine/blood , Phenylketonurias/diagnosis

Subject(s)

Factor XIII , Genetics, Medical , Consanguinity , Humans

Subject(s)

Phenylketonurias/epidemiology , Sex Ratio , Child , Female , Humans , Infant, Newborn , Male , Sex Factors

Subject(s)

Hyperbilirubinemia/radiotherapy , Phototherapy , Bilirubin/metabolism , Bilirubin/radiation effects , Humans , Hyperbilirubinemia/prevention & control , Infant, Newborn , Jaundice, Neonatal/radiotherapy , Light/adverse effects

Subject(s)

Mass Screening , Phenylketonurias/epidemiology , Sex Ratio , Adult , Age Factors , Birth Order , Female , Humans , Infant , Infant, Newborn , Male , Maternal Age , Parents , Phenylalanine/blood , Phenylketonurias/blood , Phenylketonurias/diagnosis , Phenylketonurias/genetics

Subject(s)

Fibroblasts/enzymology , Glucosidases/metabolism , Glycogen Storage Disease/enzymology , Amniotic Fluid , Carbon Isotopes , Female , Fetal Diseases/diagnosis , Glycogen Storage Disease/diagnosis , Humans , Infant , Male , Pregnancy , Skin

Subject(s)

Culture Techniques , Metabolism, Inborn Errors/diagnosis , Acid Phosphatase , Alkaline Phosphatase/metabolism , Amino Acid Metabolism, Inborn Errors/diagnosis , Amniotic Fluid , Catalase/metabolism , Cell Line , Cystic Fibrosis/diagnosis , Cystinosis/diagnosis , Diffuse Cerebral Sclerosis of Schilder/diagnosis , Humans , Immunologic Deficiency Syndromes/diagnosis , Leukocytes , Lipid Metabolism, Inborn Errors/diagnosis , Methods , Mucopolysaccharidoses/diagnosis , Mucopolysaccharidosis IV/diagnosis , Muscular Dystrophies/diagnosis , Myotonia/diagnosis , Refsum Disease/diagnosis , Skin

Subject(s)

Jaundice, Neonatal , Bilirubin/metabolism , Female , Fetus/metabolism , Hemolysis , Humans , Infant, Newborn , Jaundice, Neonatal/etiology , Kernicterus/prevention & control , Liver Circulation , Maternal-Fetal Exchange , Pregnancy , Protein Binding