Results 21 to 30 of about 5,389 (175)
Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias
Metabolites, 2014 Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur +3 more
doaj +1 more source
Acute intermittent porphyria: Diagnostic dilemma and treatment options
Journal of Anaesthesiology Clinical Pharmacology, 2015 Acute intermittent porphyria (AIP) presents with diverse group of symptoms making its early diagnosis difficult. Delaying diagnosis and treatment of AIP can be fatal or can cause long term or permanent neurological damage.
Mohan Deep Kaur +3 more
doaj +1 more source
Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]
J Inherit Metab DisABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
europepmc +2 more sources
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
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
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
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
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
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
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
doaj +1 more source