Search Results - "Paul Wilson, J. H."

Medical and financial burden of acute intermittent porphyria by Neeleman, Rochus A., Wagenmakers, Margreet A. E. M., Koole-Lesuis, Rita H., Mijnhout, G. Sophie, Wilson, J. H. Paul, Friesema, Edith C. H., Langendonk, Janneke G.

“…Introduction A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality…”
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Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports by Vroegindeweij, Lena H P, Boon, Agnita J W, Wilson, J H Paul, Langendonk, Janneke G

“…Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on…”
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Heme as an initial treatment for severe decompensation in tyrosinemia type 1 by Neeleman, Rochus A., Wilson, J. H. Paul, Williams, Monique, Langendonk, Janneke G.

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Clinical Remission of Delta‐Aminolevulinic Acid Dehydratase Deficiency Through Suppression of Erythroid Heme Synthesis by Neeleman, Rochus A., van Beers, Eduard J., Friesema, Edith C., Koole‐Lesuis, Rita, van der Pol, Willem L., Wilson, J.H. Paul, Langendonk, Janneke G.

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The impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria by Kluijver, Louisa G, Wagenmakers, Margreet A E M, Wilson, J H Paul, Langendonk, Janneke G

“…Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disease, causing lifelong painful phototoxic reactions, minimal sunlight exposure, and…”
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Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria by van Tuyll van Serooskerken, Anne Moniek, de Rooij, Felix W., Edixhoven, Annie, Bladergroen, Reno S., Baron, Jens M., Joussen, Sylvia, Merk, Hans F., Steijlen, Peter M., Poblete-Gutiérrez, Pamela, te Velde, Kornelis, Paul Wilson, J.H., Koole, Rita H., van Geel, Michel, Frank, Jorge

“…The simultaneous dysfunction of two enzymes within the heme biosynthetic pathway in a single patient is rare. Not more than 15 cases have been reported. A…”
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Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice by Wensink, Debby, Wagenmakers, Margreet A E M, Barman-Aksözen, Jasmin, Friesema, Edith C H, Wilson, J H Paul, van Rosmalen, Joost, Langendonk, Janneke G

“…The effectiveness of afamelanotide treatment in patients with erythropoietic protoporphyria (EPP) in clinical practice who experience pain after light exposure…”
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Liver involvement in patients with erythropoietic protoporphyria by Wensink, Debby, Coenen, Sandra, Wilson, J.H. Paul, Wagenmakers, Margreet A.E.M., Langendonk, Janneke G.

“…In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile…”
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Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study by Wensink, Debby, Wagenmakers, Margreet A.E.M., Qi, Hongchao, Wilson, J.H. Paul, Langendonk, Janneke G.

“…Erythropoietic protoporphyria (EPP) patients suffer from painful phototoxicity. Sunlight-avoiding behaviour has not yet been quantified objectively in EPP…”
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Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib by Paul Wilson, JH, Liem, Ylian S, Bode, Lars, Freeze, Hudson H, Leebeek, Frank WG, Zandbergen, Adrienne AM

“…This article considers the case of a 22-year-old female with congenital disorder of glycosylation type Ib and a history of congenital hepatic fibrosis, portal…”
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CARD15 mutations in Dutch familial and sporadic inflammatory bowel disease and an overview of European studies by van der Linde, Klaas, Boor, Patrick P.C, Houwing-Duistermaat, Jeanine J, Crusius, Bart J.A, Wilson, Paul J.H, Kuipers, Ernst J, de Rooij, Felix W.M

“…OBJECTIVESThe single nucleotide variations R702W, G908R and L1007fs in the CARD15 gene have been found to be independently associated with Crohnʼs disease. The…”
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MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study by Vroegindeweij, Lena H.P., Wielopolski, Piotr A., Boon, Agnita J.W., Wilson, J.H. Paul, Verdijk, Rob M., Zheng, Sipeng, Bonnet, Sylvestre, Bossoni, Lucia, van der Weerd, Louise, Hernandez-Tamames, Juan A., Langendonk, Janneke G.

“…Non-invasive measures of brain iron content would be of great benefit in neurodegeneration with brain iron accumulation (NBIA) to serve as a biomarker for…”
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Erythropoietic protoporphyria in the Netherlands: Clinical features, psychosocial impact and the effect of afamelanotide by Wensink, Debby, Wagenmakers, Margreet A. E. M., Wilson, J. H. Paul, Langendonk, Janneke G.

“…Erythropoietic protoporphyria (EPP) patients experience severe burning pain after light exposure, which results in a markedly reduced quality of life. However,…”
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Nasal polyposis in Peutz–Jeghers syndrome: a distinct histopathological and molecular genetic entity by de Leng, Wendy W J, Westerman, Anne Marie, Weterman, Marian A J, Jansen, Marnix, van Dekken, Herman, Giardiello, Francis M, de Rooij, Felix W M, Paul Wilson, J H, Offerhaus, G Johan A, Keller, Josbert J

“…Background: Peutz–Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis syndrome of the gastrointestinal tract, caused by a germline…”
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High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome by van Lier, Margot G F, Westerman, Anne Marie, Wagner, Anja, Looman, Caspar W N, Wilson, J H Paul, de Rooij, Felix W M, Lemmens, Valery E P P, Kuipers, Ernst J, Mathus-Vliegen, Elisabeth M H, van Leerdam, Monique E

“…Peutz-Jeghers syndrome (PJS) is associated with an increased cancer risk. As the determination of optimal surveillance strategies is hampered by wide ranges in…”
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Afamelanotide for Erythropoietic Protoporphyria by Langendonk, Janneke G, Balwani, Manisha, Anderson, Karl E, Bonkovsky, Herbert L, Anstey, Alexander V, Bissell, D. Montgomery, Bloomer, Joseph, Edwards, Chris, Neumann, Norbert J, Parker, Charles, Phillips, John D, Lim, Henry W, Hamzavi, Iltefat, Deybach, Jean-Charles, Kauppinen, Raili, Rhodes, Lesley E, Frank, Jorge, Murphy, Gillian M, Karstens, Francois P.J, Sijbrands, Eric J.G, de Rooij, Felix W.M, Lebwohl, Mark, Naik, Hetanshi, Goding, Colin R, Wilson, J.H. Paul, Desnick, Robert J

“…In patients with erythropoietic protoporphyria, sensitivity to the sun leads to pain and compromised quality of life. In two clinical trials, one in Europe and…”
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New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients by Vroegindeweij, Lena H.P, Langendonk, Janneke G, Langeveld, Mirjam, Hoogendoorn, Mels, Kievit, Anneke J.A, Di Raimondo, Domenico, Wilson, J.H. Paul, Boon, Agnita J.W

“…Abstract Introduction The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients…”
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Randomized clinical trial of adenosine 5′-triphosphate on tumor growth and survival in advanced lung cancer patients by Agteresch, Hendrik J, Burgers, Sjaak A, van der Gaast, Ate, Paul Wilson, J. H, Dagnelie, Pieter C

“…We recently reported that regular infusions of adenosine 5′-triphosphate (ATP) inhibited loss of body weight and quality of life in patients with non-small…”
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Aceruloplasminemia: Neurodegeneration with brain iron accumulation associated with psychosis by Vroegindeweij, Lena H.P., Boon, Agnita J.W., Wilson, J.H.Paul, Langendonk, Janneke G.

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Quantification of different iron forms in the aceruloplasminemia brain to explore iron-related neurodegeneration by Vroegindeweij, Lena H.P., Bossoni, Lucia, Boon, Agnita J.W., Wilson, J.H. Paul, Bulk, Marjolein, Labra-Muñoz, Jacqueline, Huber, Martina, Webb, Andrew, van der Weerd, Louise, Langendonk, Janneke G.

“…•Ferrihydrite-iron is the most abundant iron form in the aceruloplasminemia brain.•Iron concentrations over 1 mg/g are found in deep gray matter…”
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