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Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 5, pp. 1131 - 1141.e9
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2015, Volume 125, Issue 4, pp. 1665 - 1669
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 02/2017, Volume 1863, Issue 2, pp. 428 - 439
Mutations in the C-terminus of human erythroid 5-aminolevulinate synthase (hALAS2), a pyridoxal 5′-phosphate (PLP)-dependent enzyme, are associated with two... 
Porphyria | Enzyme inhibitors | Anemia | Heme | Pyridoxal 5′-phosphate | 5-Aminolevulinate synthase | Enzyme stuctures | HEME-BIOSYNTHESIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | SIDEROBLASTIC ANEMIA | PYRIDOXINE-RESPONSIVE ANEMIA | ENZYME | BIOPHYSICS | LIVER-INJURY | SUCCINYL-COA SYNTHETASE | DRUGS | Pyridoxal 5 '-phosphate | MUTATIONS | DOMINANT PROTOPORPHYRIA | BINDING | 5-Aminolevulinate Synthetase - deficiency | Isoniazid - pharmacology | Protoporphyria, Erythropoietic - drug therapy | Genetic Diseases, X-Linked - enzymology | Protoporphyria, Erythropoietic - blood | Humans | Enzyme Inhibitors - pharmacology | Protoporphyrins - blood | 5-Aminolevulinate Synthetase - chemistry | 5-Aminolevulinate Synthetase - antagonists & inhibitors | Vitamin B Complex - pharmacology | Enzyme Inhibitors - therapeutic use | Pyridoxal Phosphate - metabolism | Genetic Diseases, X-Linked - drug therapy | Protein Binding - drug effects | Anemia, Sideroblastic - enzymology | Isoniazid - therapeutic use | 5-Aminolevulinate Synthetase - metabolism | Protoporphyria, Erythropoietic - enzymology | HeLa Cells | 5-Aminolevulinate Synthetase - blood | Genetic Diseases, X-Linked - blood | Protein Structure, Tertiary - drug effects | Pyridoxine - pharmacology | Phosphates | Enzymes | Medical research | Medicine, Experimental | Isoniazid | Fluorescence microscopy | Fluorescence
Journal Article
Journal Article
Journal of Immunological Methods, ISSN 0022-1759, 10/2010, Volume 362, Issue 1-2, pp. 1 - 9
Journal Article
Clinical Chemistry, ISSN 0009-9147, 02/2018, Volume 64, Issue 2, pp. 336 - 345
BACKGROUND: Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling... 
ANEUPLOIDY | MATERNAL PLASMA | COST-ANALYSIS | MONOGENIC DISEASES | CYSTIC-FIBROSIS | MUTATIONS | MEDICAL LABORATORY TECHNOLOGY | BETA-THALASSEMIA | FREE FETAL DNA | GENOME | BLOOD | Reproducibility of Results | Genetic Diseases, Inborn - blood | Humans | Clinical Protocols | Fetus - metabolism | Genetic Diseases, Inborn - genetics | Genes, Recessive | Genetic Diseases, X-Linked - diagnosis | Polymerase Chain Reaction - methods | Pregnancy | Cell-Free Nucleic Acids - blood | Alleles | Adult | Female | Genetic Diseases, X-Linked - genetics | Heterozygote | Polymorphism, Single Nucleotide | Mutation | Prenatal Diagnosis - methods | Genetic Diseases, Inborn - diagnosis | Genetic Diseases, X-Linked - blood | Ethylenediaminetetraacetic acid | Pregnant women | Genes | Hemophilia | Cystic fibrosis | Genetic aspects | Disease susceptibility | Single nucleotide polymorphisms | Neonates | Plasma | Genomics | Pregnancy complications | Disorders | Parents | Prenatal development | Risk | Villus | Single-nucleotide polymorphism | Assaying | Medical diagnosis | Blood | Mevalonate kinase | Mevalonic acid | Anxiety | Diagnosis | Deoxyribonucleic acid--DNA | Amniocentesis | Congenital diseases | Complications | Fetuses | Thalassemia | Disease control | Hearing loss | Polymerase chain reaction | Prenatal diagnosis | Fibrosis | Ornithine | Methods | Metabolic disorders
Journal Article