Results 191 to 200 of about 21,981 (227)
Some of the next articles are maybe not open access.
Mayo Clinic Proceedings, 2002
Childhood porphyrias are an uncommon group of metabolic disorders that result from inherited deficiencies of enzymes involved in the heme biosynthetic pathway. Although childhood porphyrias have been reported globally, their exact incidence is unknown. The inheritance patterns of these disorders are complex.
openaire +2 more sources
Childhood porphyrias are an uncommon group of metabolic disorders that result from inherited deficiencies of enzymes involved in the heme biosynthetic pathway. Although childhood porphyrias have been reported globally, their exact incidence is unknown. The inheritance patterns of these disorders are complex.
openaire +2 more sources
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria
New England Journal of Medicine, 2020Manisha Balwani +2 more
exaly
Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism
New England Journal of Medicine, 1972Urs A Meyer
exaly