[A case of acute intermittent porphyria]. 1953

MARZET, and MARTIN, and NANCY, and GALTIER D'AURIAC

UI MeSH Term Description Entries
D011161 Porifera The phylum of sponges which are sessile, suspension-feeding, multicellular animals that utilize flagellated cells called choanocytes to circulate water. Most are hermaphroditic. They are probably an early evolutionary side branch that gave rise to no other group of animals. Except for about 150 freshwater species, sponges are marine animals. They are a source of ALKALOIDS; STEROLS; and other complex molecules useful in medicine and biological research. Demospongiae,Sponges (Zoology),Sponge (Zoology),Sponges,Poriferas,Sponge
D011164 Porphyrias A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D017118 Porphyria, Acute Intermittent An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. Hydroxymethylbilane Synthase Deficiency,Uroporphyrinogen Synthase Deficiency,Acute Porphyria,PBGD Deficiency,Porphobilinogen Deaminase Deficiency,Porphyria, Swedish Type,UPS Deficiency,Acute Intermittent Porphyria,Acute Intermittent Porphyrias,Acute Porphyrias,Deaminase Deficiencies, Porphobilinogen,Deaminase Deficiency, Porphobilinogen,Deficiencies, Hydroxymethylbilane Synthase,Deficiencies, PBGD,Deficiencies, Porphobilinogen Deaminase,Deficiencies, UPS,Deficiencies, Uroporphyrinogen Synthase,Deficiency, Hydroxymethylbilane Synthase,Deficiency, PBGD,Deficiency, Porphobilinogen Deaminase,Deficiency, UPS,Deficiency, Uroporphyrinogen Synthase,Hydroxymethylbilane Synthase Deficiencies,Intermittent Porphyria, Acute,Intermittent Porphyrias, Acute,PBGD Deficiencies,Porphobilinogen Deaminase Deficiencies,Porphyria, Acute,Porphyrias, Acute,Porphyrias, Acute Intermittent,Porphyrias, Swedish Type,Swedish Type Porphyria,Swedish Type Porphyrias,Synthase Deficiencies, Hydroxymethylbilane,Synthase Deficiencies, Uroporphyrinogen,Synthase Deficiency, Hydroxymethylbilane,Synthase Deficiency, Uroporphyrinogen,Type Porphyria, Swedish,Type Porphyrias, Swedish,UPS Deficiencies,Uroporphyrinogen Synthase Deficiencies

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