Journal of Pediatric Critical Care, 2021 Acute intermittent porphyria (AIP) is an inborn error caused due to inherited deficiency of porphobilinogen (PBG) deaminase leading to increased levels of aminolevulinic acid and PBG.
Ravi Sharma +2 more
doaj +1 more source
PORPHOBILINOGEN DEAMINASE deficiency alters vegetative and reproductive development and causes lesions in Arabidopsis. [PDF]
PLoS ONE, 2013 The Arabidopsis rugosa1 (rug1) mutant has irregularly shaped leaves and reduced growth. In the absence of pathogens, leaves of rug1 plants have spontaneous lesions reminiscent of those seen in lesion-mimic mutants; rug1 plants also express cytological ...
Víctor Quesada +5 more
doaj +1 more source
Zeitschrift für Naturforschung C, 1974 Abstract New methods for the synthesis of the aminomethyldipyrrolylmethane and the aminomethyl-tripyrrane, which are resulting from formal head to tail condensation of porphobilinogen are de scribed. Porphobilinogen was used as base material in these procedures.
Jochen Bausch +2 more
openaire +1 more source
Heme biosynthesis and its regulation: towards understanding and improvement of heme biosynthesis in filamentous fungi [PDF]
, 1982 Heme biosynthesis in fungal host strains has acquired considerable interest in relation to the production of secreted heme-containing peroxidases.
Weert, S. de +6 more
core +2 more sources
Egyptian Journal of Critical Care Medicine, 2020 Acute intermittent porphyria is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen deaminase leading to increased levels of haem precursors, namely aminolevulinic acid and porphobilinogen.
Mohamed A. Ahmed +2 more
doaj +1 more source
Hemotórax espontáneo: una forma inusual de presentación de la porfiria intermitente aguda
Biomédica: revista del Instituto Nacional de Salud, 2009 Las porfirias son un grupo de alteraciones metabólicas de la síntesis del hem, de carácter hereditario. Son condiciones relativamente raras, de difícil diagnóstico, pero con una respuesta impresionante al tratamiento y con buen pronóstico, si se ...
Juliana Buitrago, Sandra Viviana Santa
doaj +1 more source
Porphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides Medical Journal, 2018 The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
doaj +1 more source
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
doaj +1 more source
Genomic differences between Fibrobacter succinogenes S85 and Fibrobacter intestinalis DR7, identified by suppression subtractive hybridization [PDF]
, 2008 Fibrobacter is a highly cellulolytic genus commonly found in the rumen of ruminant animals and cecum of monogastric animals. In this study, suppression subtractive hybridization was used to identify the genes present in Fibrobacter succinogenes S85 but ...
Qi, M. +6 more
core +1 more source
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
doaj +1 more source