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Joelle Deibener-Kaminsky

Explore the profile of Joelle Deibener-Kaminsky including associated specialties, affiliations and a list of published articles. Areas
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Articles 6
Citations 29
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Recent Articles
1.
Tard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, et al.
Eur J Neurol . 2024 Apr; 31(7):e16292. PMID: 38587143
Introduction: Late-onset Pompe disease (LOPD) is characterized by a progressive myopathy resulting from a deficiency of acid α-glucosidase enzyme activity. Enzyme replacement therapy has been shown to be effective, but...
2.
Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, et al.
J Allergy Clin Immunol . 2023 Jun; 152(4):972-983. PMID: 37343845
Background: Gain-of-function variants of JAK1 drive a rare immune dysregulation syndrome associated with atopic dermatitis, allergy, and eosinophilia. Objectives: This study sought to describe the clinical and immunological characteristics associated...
3.
Peultier-Celli L, Jaussaud R, Kaminsky P, Deibener-Kaminsky J, Feillet F, Perrin P
Front Neurol . 2022 Oct; 13:856946. PMID: 36247762
Background: Fabry disease (FD) is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to an accumulation of glycosphingolipids leading to...
4.
Papadopoulos C, Orlikowski D, Prigent H, Lacour A, Tard C, Furby A, et al.
Mol Genet Metab . 2017 Jun; 122(1-2):80-85. PMID: 28648663
Background: The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess...
5.
Guffroy A, Dervieux B, Gravier S, Martinez C, Deibener-Kaminsky J, Hachulla E, et al.
Semin Arthritis Rheum . 2016 Sep; 46(4):509-512. PMID: 27637319
Objectives: Systemic capillary leak syndrome (Clarkson's disease) is a rare entity characterized by recurrent and unpredictable attacks of capillary leakage of plasma fluid and proteins throughout the endothelium. Some cases...
6.
Deibener-Kaminsky J, Lesesve J, Kaminsky P
Lab Hematol . 2011 Mar; 17(1):1-5. PMID: 21421538
Background: Abdominal pain is a common symptom underlying a variety of disorders with different prognoses. Neutrophilia or lymphopenia have been used as prognostic markers in several stress- or infection-mediated disorders....