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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2017, Volume 114, Issue 38, pp. E8045 - E8052
Journal Article
Biochemistry, ISSN 0006-2960, 09/2015, Volume 54, Issue 36, pp. 5617 - 5631
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2016, Volume 89, Issue 1, pp. 20 - 26
Journal Article
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
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2019, Volume 128, Issue 3, pp. 298 - 303
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the... 
Porphyria | Genetics | Photodermatosis | Metabolic | Heme-biosynthesis | MEDICINE, RESEARCH & EXPERIMENTAL | LIVER-TRANSPLANTATION | BONE-MARROW-TRANSPLANTATION | PHOTOSENSITIVITY | FERROCHELATASE GENE | IRON-METABOLISM | MUTATION | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | PORPHYRIAS | AFAMELANOTIDE | DOMINANT PROTOPORPHYRIA | SEQUENTIAL LIVER
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Journal Article
Journal Article