Search Results - "Lachmann, H."

Treating lysosomal storage disorders: What have we learnt? by Lachmann, Robin H.

“…The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of experience of…”
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Diagnostic value of skin biopsy in autoinflammatory diseases for patients with recurrent fever and urticarial eruption by Pham, F., Schissler, C., Schaeffer, M., Lachmann, H.‐J., Lipsker, D.

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The systemic autoinflammatory disorders for dermatologists. Part 2: disease examples by Oldham, J., Lachmann, H. J.

“…Summary The systemic autoinflammatory disorders (SAIDS) or periodic fever syndromes are disorders of innate immunity, which can be inherited or acquired. They…”
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The systemic autoinflammatory disorders for dermatologists. Part 1: overview by Oldham, J., Lachmann, H. J.

“…Summary The systemic autoinflammatory disorders (SAIDs) or periodic fever syndromes are disorders of innate immunity, which can be inherited or acquired. They…”
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Proposed Stages of Myocardial Phenotype Development in Fabry Disease by Nordin, Sabrina, Kozor, Rebecca, Medina-Menacho, Katia, Abdel-Gadir, Amna, Baig, Shanat, Sado, Daniel M., Lobascio, Ilaria, Murphy, Elaine, Lachmann, Robin H., Mehta, Atul, Edwards, Nicola C., Ramaswami, Uma, Steeds, Richard P., Hughes, Derralynn, Moon, James C.

“…This study sought to explore the Fabry myocardium in relation to storage, age, sex, structure, function, electrocardiogram changes, blood biomarkers, and…”
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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry by Lachmann, H J, Papa, R, Gerhold, K, Obici, L, Touitou, I, Cantarini, L, Frenkel, J, Anton, J, Kone-Paut, I, Cattalini, M, Bader-Meunier, B, Insalaco, A, Hentgen, V, Merino, R, Modesto, C, Toplak, N, Berendes, R, Ozen, S, Cimaz, R, Jansson, A, Brogan, P A, Hawkins, P N, Ruperto, N, Martini, A, Woo, P, Gattorno, M

“…To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome…”
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Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry by Levy, R, Gérard, L, Kuemmerle-Deschner, J, Lachmann, H J, Koné-Paut, I, Cantarini, L, Woo, P, Naselli, A, Bader-Meunier, B, Insalaco, A, Al-Mayouf, S M, Ozen, S, Hofer, M, Frenkel, J, Modesto, C, Nikishina, I, Schwarz, T, Martino, S, Meini, A, Quartier, P, Martini, A, Ruperto, N, Neven, B, Gattorno, M

“…To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus…”
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Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes by Kuemmerle-Deschner, Jasmin B, Hachulla, E, Cartwright, R, Hawkins, P N, Tran, T A, Bader-Meunier, B, Hoyer, J, Gattorno, M, Gul, A, Smith, J, Leslie, K S, Jiménez, S, Morell-Dubois, S, Davis, N, Patel, N, Widmer, A, Preiss, R, Lachmann, H J

“…Longer-term effects of prolonged selective interleukin-1β blockade with canakinumab were evaluated in the largest cohort of cryopyrin-associated periodic…”
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Schnitzler's syndrome: diagnosis, treatment, and follow‐up by Simon, A., Asli, B., Braun‐Falco, M., Koning, H., Fermand, J.‐P., Grattan, C., Krause, K., Lachmann, H., Lenormand, C., Martinez‐Taboada, V., Maurer, M., Peters, M., Rizzi, R., Rongioletti, F., Ruzicka, T., Schnitzler, L., Schubert, B., Sibilia, J., Lipsker, D.

“…Schnitzler's syndrome is characterized by recurrent urticarial rash and monoclonal gammopathy, associated with clinical and biological signs of inflammation…”
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Clinical Immunology Review Series: An approach to the patient with a periodic fever syndrome by Lachmann, H. J.

“…ARTICLES PUBLISHED IN THIS CLINICAL IMMUNOLOGY REVIEW SERIES allergy in childhood, allergy diagnosis by use of the clinical immunology laboratory, anaphylaxis,…”
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In-depth phenotyping for clinical stratification of Gaucher disease by D'Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y, Poole, Kenneth, Jones, Simon A, Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H, Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M

“…The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5-87 years with Gaucher disease in the United Kingdom-an…”
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Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping by Sado, Daniel M, White, Steven K, Piechnik, Stefan K, Banypersad, Sanjay M, Treibel, Thomas, Captur, Gabriella, Fontana, Marianna, Maestrini, Viviana, Flett, Andrew S, Robson, Matthew D, Lachmann, Robin H, Murphy, Elaine, Mehta, Atul, Hughes, Derralynn, Neubauer, Stefan, Elliott, Perry M, Moon, James C

“…Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to…”
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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease by Neumann, Juliane, Bras, Jose, Deas, Emma, O'Sullivan, Sean S., Parkkinen, Laura, Lachmann, Robin H., Li, Abi, Holton, Janice, Guerreiro, Rita, Paudel, Reema, Segarane, Badmavady, Singleton, Andrew, Lees, Andrew, Hardy, John, Houlden, Henry, Revesz, Tamas, Wood, Nicholas W.

“…Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an…”
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How not to miss autoinflammatory diseases masquerading as urticaria by Krause, K., Grattan, C. E., Bindslev-Jensen, C., Gattorno, M., Kallinich, T., de Koning, H. D., Lachmann, H. J., Lipsker, D., Navarini, A. A., Simon, A., Traidl-Hoffmann, C., Maurer, M.

“…Urticarial skin reactions are one of the most frequent problems seen by allergists and clinical immunologists in daily practice. The most common reason for…”
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Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations by Lachmann, H. J., Şengül, B., Yavuzşen, T. U., Booth, D. R., Booth, S. E., Bybee, A., Gallimore, J. R., Soytürk, M., Akar, S., Tunca, M., Hawkins, P. N.

“…Objective. To prospectively monitor inflammatory activity over a prolonged period in a cohort of Turkish patients with FMF, their healthy relatives and healthy…”
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Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial by Raal, Frederick J, Prof, Santos, Raul D, MD, Blom, Dirk J, MD, Marais, A David, Prof, Charng, Min-Ji, MD, Cromwell, William C, MD, Lachmann, Robin H, MRCP, Gaudet, Daniel, MD, Tan, Ju L, MB BS, Chasan-Taber, Scott, PhD, Tribble, Diane L, PhD, Flaim, JoAnn D, PhD, Crooke, Stanley T, MD

“…Summary Background Homozygous familial hypercholesterolaemia is a rare genetic disorder in which both LDL-receptor alleles are defective, resulting in very…”
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Solid Organ Transplantation in AL Amyloidosis by Sattianayagam, P. T., Gibbs, S. D. J., Pinney, J. H., Wechalekar, A. D., Lachmann, H. J., Whelan, C. J., Gilbertson, J. A., Hawkins, P. N., Gillmore, J. D.

“…Vital organ failure remains common in AL amyloidosis. Solid organ transplantation is contentious because of the multisystem nature of this disease and risk of…”
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Anakinra for palmoplantar pustulosis: results from a randomized, double‐blind, multicentre, two‐staged, adaptive placebo‐controlled trial (APRICOT) by Cro, S., Cornelius, V.R., Pink, A.E., Wilson, R., Pushpa‐Rajah, A., Patel, P., Abdul‐Wahab, A., August, S., Azad, J., Becher, G., Chapman, A., Dunnill, G., Ferguson, A.D., Fogo, A., Ghaffar, S.A., Ingram, J.R., Kavakleiva, S., Ladoyanni, E., Leman, J.A., Macbeth, A.E., Makrygeorgou, A., Parslew, R., Ryan, A.J., Sharma, A., Shipman, A.R., Sinclair, C., Wachsmuth, R., Woolf, R.T., Wright, A., McAteer, H., Barker, J.N.W.N., Burden, A.D., Griffiths, C.E.M., Reynolds, N.J., Warren, R.B., Lachmann, H.J., Capon, F., Smith, C.H., Altamura, Davide, Piguet, Vincent, Verdolini, Roberto, Wallace, Marc, Sundararaj, Kavitha, Arujuna, Nisha, Fleming, Charlotte, Lamb, Ruth, Dodds, Jacqueline, Baryschpolec, Sonia, Cooper, Hywel

“…Summary Background Palmoplantar pustulosis (PPP) is a rare, debilitating, chronic inflammatory skin disease that affects the hands and feet. Clinical,…”
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Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults by Lachmann, Robin H, Diaz, George A, Wasserstein, Melissa P, Armstrong, Nicole M, Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica

“…Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indicated for non-central nervous system manifestations…”
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A matched comparison of cyclophosphamide, bortezomib and dexamethasone (CVD) versus risk-adapted cyclophosphamide, thalidomide and dexamethasone (CTD) in AL amyloidosis by Venner, C P, Gillmore, J D, Sachchithanantham, S, Mahmood, S, Lane, T, Foard, D, Rannigan, L, Gibbs, S D J, Pinney, J H, Whelan, C J, Lachmann, H J, Hawkins, P N, Wechalekar, A D

“…Despite improvements in therapy amyloid light-chain (AL) amyloidosis, there are few studies comparing different regimens. Here we present a matched comparison…”
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