Results 31 to 40 of about 5,001 (177)
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
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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
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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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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
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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
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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
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Testing for Porphobilinogen in Urine [PDF]
Clinical Chemistry, 2002 Increased porphobilinogen (PBG) in urine is pathognomonic of an attack or “crisis” of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis.
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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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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
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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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