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Title:
Genetic, Metabolic, and Biochemical Aspects of the Porphyrias | SpringerLink
Description:
The human porphyrias comprise a group of inherited and acquired disorders characterized by aberrations in activities of specific enzymes of the heme biosynthetic pathway. The nosology, natural history, and clinical characteristics of these diseases have been well...
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Keywords {🔍}
google, scholar, cas, pubmed, porphyria, med, acid, clin, liver, biochem, δaminolevulinic, chem, studies, synthetase, erythropoietic, biol, porphyrin, human, sci, heme, acute, hepatic, activity, biophys, intermittent, cutanea, tarda, kappas, uroporphyrinogen, induction, synthesis, acad, porphyrias, sassa, biosynthesis, acta, granick, porphyrins, arch, porphobilinogen, metabolism, synthase, usa, watson, congenital, proc, cells, protoporphyria, res, natl,
Topics {✒️}
increased erythrocyte uroporphyrinogen-i-synthetase la copro-porphyrie héréditaire steroid δ4–5α-reductase activity δ-aminolevulinic acid dehydratase δ-aminolevulinic acid synthetase short-lived messenger rna radioactive δ-aminolevulinic acid exogenous δ-aminolevulinic acid delta-aminolevulinic acid dehydratase delta-aminolevulinic acid synthetase amino-laevulinic acid synthetase δ-dioxovaleric acid aminotransferase δ-aminolevulinic acid transaminase 14c-δ-aminolevulinic acid δ-aminolevulinic acid—3h mitogen-stimulated human lymphocytes δ-dioxovalerate aminotransferase activity frog nerve-muscle function chlorinated dibenzo-p-dioxins δ-aminolevulinic acid synthase de toni-fanconi syndrome hepatic δ-aminolevulinate dehydratase hepatic δ-aminolevulinate synthetase increased ala-synthetase activity unselected ten-year material enzyme δ-aminolevulinate synthetase mammalian l-alanine γ bovine porphyria erythropoie-tica modified porphyrin n-substituted porphyrie erythropoiétique congénitale die kongenitale porphyrie der späten hautporphyrie anticonvulsant medication-induced metabolic friend erythroleukemia cells über das turacin stable enzyme-substrate intermediates hepatic drug-metabolizing enzymes 5-aminolevulinic acid dehydratase δ-aminolevulinic acid friend leukemia cells δ-aminolaevulinic acid delta-aminolevulinic acid une grande famille elsevier/north-holland biochem delta-aminolaevulinic acid erythroid colony growth drug-induced hepatic porphyria δ-aminolevulinate dehydratase porphyrin-heme biosynthetic pathway δ-aminolevulinate synthetase
Questions {❓}
- , 1978, Porphyria: Cutanea tarda or variegata?
- Is the modified porphyrin N-substituted?
Schema {🗺️}
ScholarlyArticle:
headline:Genetic, Metabolic, and Biochemical Aspects of the Porphyrias
pageEnd:231
pageStart:121
image:https://media.springernature.com/w153/springer-static/cover/book/978-1-4615-8303-5.jpg
genre:
Biomedical and Life Sciences
Biomedical and Life Sciences (R0)
isPartOf:
name:Advances in Human Genetics 11
isbn:
978-1-4615-8303-5
978-1-4615-8305-9
type:Book
publisher:
name:Springer US
logo:
url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
type:ImageObject
type:Organization
author:
name:Shigeru Sassa
affiliation:
name:The Rockefeller University Hospital
address:
name:The Rockefeller University Hospital, New York, USA
type:PostalAddress
type:Organization
type:Person
name:Attallah Kappas
affiliation:
name:The Rockefeller University Hospital
address:
name:The Rockefeller University Hospital, New York, USA
type:PostalAddress
type:Organization
type:Person
keywords:Porphyria Cutanea Tarda, Intermittent Acute Porphyria, Acute Intermittent Porphyria, Hepatic Porphyria, Heme Biosynthetic Pathway
description:The human porphyrias comprise a group of inherited and acquired disorders characterized by aberrations in activities of specific enzymes of the heme biosynthetic pathway. The nosology, natural history, and clinical characteristics of these diseases have been well reviewed by others (Taddeini and Watson, 1968; Dean, 1971; Tschudy and Lamon, 1980; Meyer and Schmid, 1978) and will be described in this review only to the extent that the biochemistry and genetics of these disorders seem to bear on their clinical presentations.
datePublished:1981
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