Search Results - "Badminton, Michael N"

Update review of the acute porphyrias by Stein, Penelope E., Badminton, Michael N., Rees, David C.

“…Summary Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal…”
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C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload by Whatley, Sharon D., Ducamp, Sarah, Gouya, Laurent, Grandchamp, Bernard, Beaumont, Carole, Badminton, Michael N., Elder, George H., Holme, S. Alexander, Anstey, Alexander V., Parker, Michelle, Corrigall, Anne V., Meissner, Peter N., Hift, Richard J., Marsden, Joanne T., Ma, Yun, Mieli-Vergani, Giorgina, Deybach, Jean-Charles, Puy, Hervé

“…All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe…”
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The Cutaneous Porphyrias by Schulenburg-Brand, Danja, MBChB, MMed (Chem Path), Katugampola, Ruwani, BM, MRCP, MD, Anstey, Alexander V., MD, FRCP, Badminton, Michael N., BSc, MBChB, PhD, FRCPath

“…The porphyrias are a group of mainly inherited disorders of heme biosynthesis where accumulation of porphyrins and/or porphyrin precursors gives rise to 2…”
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Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria by Holme, S. Alexander, Worwood, Mark, Anstey, Alexander V., Elder, George H., Badminton, Michael N.

“…Erythropoietic protoporphyria (EPP) results from deficiency of ferrochelatase (FECH). Accumulation of protoporphyrin IX causes life-long acute…”
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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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Liver transplantation for porphyria: Who, when, and how? by Seth, Avnish Kumar, Badminton, Michael N., Mirza, Darius, Russell, Scott, Elias, Elwyn

“…Porphyrias are a heterogenous group of diseases that may result in disabling or life threatening neurovisceral symptoms and/or cutaneous photosensitivity. In…”
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Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance by Alexander Holme, S., Whatley, Sharon D., Roberts, Andrew G., Anstey, Alexander V., Elder, George H., Ead, Russell D., Felicity Stewart, M., Farr, Peter M., Lewis, Helen M., Davies, Nicholas, White, Marion I., Simon Ackroyd, R., Badminton, Michael N.

“…Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH). It is characterized clinically by…”
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Porphyrins and the porphyrias by Fontanellas, Antonio, Avila, Matías A, Deybach, Jean-Charles, Badminton, Michael N

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Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells by Goodwin, Richard G., Kell, W. Jonathan, Laidler, Peter, Long, C. Colin, Whatley, Sharon D., McKinley, Mark, Badminton, Michael N., Burnett, Alan K., Williams, Geraint T., Elder, George H.

“…Late-onset erythropoietic protoporphyria (EPP) is a rare complication of myelodysplastic syndrome (MDS) but has not been described in association with a…”
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Symptomatic response of erythropoietic protoporphyria to iron supplementation by Holme, S. Alexander, MRCP, Thomas, Charles L., MRCP, Whatley, Sharon D., PhD, Bentley, Douglas P., FRCP, Anstey, Alexander V., FRCP, Badminton, Michael N., MRCPath

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From chemistry to genomics: A concise history of the porphyrias by Badminton, Michael N., Anderson, Karl E., Deybach, Jean‐Charles, Harper, Pauline, Sandberg, Sverre, Elder, George H.

“…We describe developments in understanding of the porphyrias associated with each step in the haem biosynthesis pathway and the role of individuals whose…”
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Fundamental Ca2+ Signaling Mechanisms in Mouse Dendritic Cells: CRAC Is the Major Ca2+ Entry Pathway by Hsu, Shyue-fang, O'Connell, Peta J, Klyachko, Vitaly A, Badminton, Michael N, Thomson, Angus W, Jackson, Meyer B, Clapham, David E, Ahern, Gerard P

“…Although Ca(2+)-signaling processes are thought to underlie many dendritic cell (DC) functions, the Ca(2+) entry pathways are unknown. Therefore, we…”
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Retracing an old journey in variegate porphyria by Badminton, Michael N.

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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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Liver transplantation as a cure for acute intermittent porphyria by Soonawalla, Zahir F, Orug, Taner, Badminton, Michael N, Elder, George H, Rhodes, Jonathan M, Bramhall, Simon R, Elias, Elwyn

“…Acute intermittent porphyria occasionally causes frequent and crippling acute neurovisceral attacks associated with increased hepatic production of porphyrin…”
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Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria by Sarkany, Robert P.E., Ibbotson, Sally H., Whatley, Sharon D., Lawrence, Clifford M., Gover, Pamela, Mufti, Ghulam J., Murphy, Gillian M., Masters, Gillian S., Badminton, Michael N., Elder, George H.

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Safe prescribing in the autosomal dominant acute porphyrias: a practical approach: Part II by Lockett, Cerys D., Badminton, Michael N.

“…The autosomal dominant acute hepatic porphyrias - principally acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria - can present…”
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Safe prescribing in the autosomal dominant acute porphyrias: a practical approach: Part I by Lockett, Cerys D., Badminton, Michael N.

“…The autosomal dominant acute hepatic porphyrias - principally acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria - can present…”
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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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Pregnancy in a Patient with Congenital Erythropoietic Porphyria by Badminton, Michael N, Anstey, Alexander, Hallai, Nirmala, Mendelsohn, Shevaun, Williams, John, Evans-Jones, Gareth, Malick, Sadia

“…To the Editor: Congenital erythropoietic porphyria, a rare autosomal recessive disorder of heme biosynthesis, results from markedly deficient uroporphyrinogen…”
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