. "Mamet, R." . "Mart\u00E1sek, Pavel" . . . "7"^^ . . . "Schneider-Yin, X." . . "7"^^ . "Mutations in the hydroxymethylbilane synthase (HMBS) gene are responsible for the inherited disorder of acute intermittent porphyria (AIP). AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) and a decreased erythrocytic HMBS activity, although an identifiable HMBS mutation provides the ultimate proof for AIP." . "Minder, EI" . . . "11110" . "Mutations in the hydroxymethylbilane synthase (HMBS) gene are responsible for the inherited disorder of acute intermittent porphyria (AIP). AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precursors aminolevulinic acid (ALA) and porphobilinogen (PBG) and a decreased erythrocytic HMBS activity, although an identifiable HMBS mutation provides the ultimate proof for AIP."@en . . . "Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria"@en . . "308395" . . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . . "Blood Cells Molecules & Diseases" . "2" . . "RIV/00216208:11110/09:4003!RIV10-MSM-11110___" . "Schoenfeld, N." . "2"^^ . "Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria" . . "Ulbrichov\u00E1, Dana" . "1079-9796" . . "P(1M0520), S, Z(MSM0021620806)" . "Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria" . "Saudek, V." . "[88A7409DC14B]" . "42" . . . . . "RIV/00216208:11110/09:4003" . "000263504300015" . . "Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria"@en . . . . . . "Acute intermittent porphyria; HMBS Mutation; In vitro expression; Structure-function correlation; porphobilinogen deaminase gene; hydroxymethylbilane synthase gene; de-novo mutation; missense mutations; polymorphisms; population; expression; attacks"@en . . .