Search Results - "Mason, Nicola G"

Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene by Whatley, Sharon D, Mason, Nicola G, Woolf, Jacqueline R, Newcombe, Robert G, Elder, George H, Badminton, Michael N

“…Clinically indistinguishable attacks of acute porphyria occur in acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria…”
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Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria by Whatley, Sharon D, Mason, Nicola G, Rhodes, Jonathan M, Stewart, M Felicity, Reed, Paul, Crowley, Vivion, Darby, Cindy M, Badminton, Michael N

“…Biochemical analyses of urinary porphobilinogen and por- phyrins (fecal porphyrins and plasma porphyrins) can provide the diagnosis of AIP in symptom- atic…”
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Gene Dosage Analysis Identifies Large Deletions of the FECH Gene in 10% of Families with Erythropoietic Protoporphyria by Whatley, Sharon D., Mason, Nicola G., Alexander Holme, S., Anstey, Alex V., Elder, George H., Badminton, Michael N.

“…Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria characterized by partial deficiency of ferrochelatase (FECH), accumulation of…”
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Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria by Whatley, Sharon D, Mason, Nicola G, Rhodes, Jonathan M, Stewart, M Felicity, Reed, Paul, Crowley, Vivion, Darby, Cindy M, Badminton, Michael N

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