An Apal RFLP for the human porphobilinogen deaminase gene (PBGD) [PDF]
Nucleic Acids Research, 1991 J. Hamabe, H Irifune, Norio Niikawa
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Journal of Pediatric Critical Care, 2016 Acute intermittent porphyria is an inherited metabolic disease due to deficiency of the enzyme porphobilinogen deaminase that can affect the autonomic, peripheral and central nervous system.
Rishab Bharadwaj +2 more
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Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse. [PDF]
PLoS ONE, 2012 Chronic kidney disease is a long-term complication in acute intermittent porphyria (AIP). The pathophysiological significance of hepatic overproduction of the porphyrin precursors aminolevulinate acid (ALA) and porphobilinogen (PBG) in chronic kidney ...
Carmen Unzu +8 more
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Journal of Fungi, 2021 The biosynthesis of cyclic tetrapyrrol chromophores such as heme, siroheme, and chlorophyll involves the formation of fluorescent porphyrin precursors or compounds, which become fluorescent after oxidation.
Azamat V. Karginov +3 more
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An Adolescent Female With Disordered Eating and Cannabis Use Found to Have Acute Intermittent Porphyria. [PDF]
Case Rep PsychiatryBackground: Eating disorders and cannabinoid hyperemesis syndrome are increasingly common causes of nausea, vomiting, and weight loss in adolescent females. Acute intermittent porphyria (AIP) is rare but has considerable pathophysiological overlap with these conditions and requires a high index of suspicion. Purpose and Basic Procedures: We present the
Gertz B, Mullen M, Pesavento T.
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Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report
Anais da Academia Brasileira de Ciências, 2013 Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS +4 more
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Physiological Characterization and Comparative Transcriptome Analysis of White and Green Leaves of Ananas comosus var. bracteatus. [PDF]
PLoS ONE, 2017 Leaf coloration is one of the most important and attractive characteristics of Ananas comosus var. bracteatus. The chimeric character is not stable during the in vitro tissue culturing.
Xia Li +7 more
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A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy
Journal of Family Medicine and Primary Care, 2018 Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively.
Garima Agrawal Varshney +2 more
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Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]
Liaquat National Journal of Primary CareA deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi +2 more
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Biomedicines, 2022 Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by the hepatic deficiency of porphobilinogen deaminase (PBGD) and the slowdown of heme biosynthesis.
Miriam Longo +3 more
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