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Cellular and molecular biology (Noisy-le-Grand, France), 2013
Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is an autosomal dominant disorder with low penetrance that results from a partial deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway.
Méndez, Manuel +8 more
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Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is an autosomal dominant disorder with low penetrance that results from a partial deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway.
Méndez, Manuel +8 more
openaire +1 more source
Molecular Genetics and Metabolism, 2018
Genetic variants in promoters and alternative-splicing lesions require to be experimentally tested in order to validate them as causatives of a disease. The digital PCR (dPCR) approach, which is an alternative to the classical qPCR, is an innovative and a more sensitive method for the detection and quantification of nucleic acids. In the present study,
Granata, Francesca +6 more
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Genetic variants in promoters and alternative-splicing lesions require to be experimentally tested in order to validate them as causatives of a disease. The digital PCR (dPCR) approach, which is an alternative to the classical qPCR, is an innovative and a more sensitive method for the detection and quantification of nucleic acids. In the present study,
Granata, Francesca +6 more
openaire +3 more sources
Journal of Neurology, Neurosurgery & Psychiatry, 2012
64-year old lady presented with sudden onset of flaccid tetraparesis and absent reflexes. Sensory deficit was non-dermatomal: affecting trunk, shoulders and buttocks. She was intolerant of multiple antibiotics and analgesics. Codeine dose was increased on admission. MRI whole spine was normal.
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64-year old lady presented with sudden onset of flaccid tetraparesis and absent reflexes. Sensory deficit was non-dermatomal: affecting trunk, shoulders and buttocks. She was intolerant of multiple antibiotics and analgesics. Codeine dose was increased on admission. MRI whole spine was normal.
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Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Human genetics, 2004E. Di Pierro, V. Besana, M.D. Cappellini
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Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Human genetics, 2008Dana, Ulbrichova +3 more
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Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Human genetics, 2004C S, Solis +4 more
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Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Human genetics, 2007E, Di Pierro +4 more
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