Wladimir Mauhin
A5084141736- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Trypanosoma species research and implications
- Inflammatory Myopathies and Dermatomyositis
- Sphingolipid Metabolism and Signaling
- Biomedical Research and Pathophysiology
- Glycogen Storage Diseases and Myoclonus
- Erythrocyte Function and Pathophysiology
- Studies on Chitinases and Chitosanases
- Eosinophilic Disorders and Syndromes
- Liver Diseases and Immunity
- Muscle and Compartmental Disorders
- COVID-19 Clinical Research Studies
- Neonatal Health and Biochemistry
- Muscle Physiology and Disorders
- Ginkgo biloba and Cashew Applications
- Osteomyelitis and Bone Disorders Research
- Complement system in diseases
- Amino Acid Enzymes and Metabolism
- Hemoglobinopathies and Related Disorders
- Microbial Metabolic Engineering and Bioproduction
- Dermatological and COVID-19 studies
- Pancreatitis Pathology and Treatment
- Cerebrovascular and genetic disorders
Groupe Hospitalier Diaconesses Croix Saint-Simon
2019-2025
Sorbonne Université
2014-2024
Inserm
2016-2024
Centre de Recherche en Myologie
2017-2024
Institut de Myologie
2017-2022
Centre de Référence des Maladies Autoinflammatoires et des Amyloses
2022
Weatherford College
2021
Hôpital de la Croix-Rousse
2019
Assistance Publique – Hôpitaux de Paris
2017-2018
Pitié-Salpêtrière Hospital
2014-2018
In most patients with nonsevere systemic necrotizing vasculitides (SNVs), remission is achieved glucocorticoids alone, but one-third experience a relapse within 2 years. This study was undertaken to determine whether the addition of azathioprine (AZA) could achieve higher sustained rate newly diagnosed eosinophilic granulomatosis polyangiitis (Churg-Strauss) (EGPA), microscopic (MPA), or polyarteritis nodosa (PAN).All included in this double-blind trial received glucocorticoids, gradually...
Immune-mediated necrotizing myopathies (IMNM) may be associated with either anti-signal recognition protein (SRP) or anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) antibodies (Abs), and the titer of these Abs is correlated disease activity. We investigated whether anti-SRP anti-HMGCR could involved in muscle damage.Muscle biopsies patients were analyzed for atrophy regeneration by measuring fiber size performing immunostaining neonatal myosin heavy chain. To further understand role...
Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding cationic amino-acids transporter subunit y+LAT1. The characterised by protein-rich food with secondary urea cycle disorder, but symptoms are heterogeneous ranging infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI both children and...
Fabry disease is an X-linked lysosomal storage in which mutations of the gene (GLA) cause a deficiency hydrolase α-galactosidase A (α-Gal). This defect results accumulation glycosphingolipids, primarily globotriaosylceramide (Gb3) causes multisystemic vasculopathy. Available since 2001 Europe, enzyme replacement therapy consists administration agalsidase, recombinant form A. Enzyme was shown to improve global prognosis but allowed partial success preventing critical events such as strokes...
Objective: Systemic capillary-leak syndrome is a very rare cause of recurrent hypovolemic shock. Few data are available on its clinical manifestations, laboratory findings, and outcomes those patients requiring ICU admission. This study was undertaken to describe the pictures management severe systemic episodes. Design, Setting, Patients: multicenter retrospective analysis concerned entered in European Clarkson’s disease (EurêClark) Registry admitted ICUs between May 1992 February 2016....
Background: Fabry disease (FD) is an X-linked progressive lysosomal (LD) due to glycosphingolipid metabolism impairment. Currently, plasmatic globotriaosylsphingosine (LysoGb3) used for diagnosis and monitoring. However, this biomarker inconstantly increased in mild forms some female patients. Materials Methods: We applied a targeted proteomic approach explore disease-related biological patterns that might explain the pathophysiology. Forty proteins, involved mainly inflammatory angiogenesis...
Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies (ERT) have been available. We aimed to determine the epidemiology functional characteristics anti-drug antibodies. Patients from French multicenter cohort FFABRY (n = 103 patients, 53 males) were prospectively screened for total anti-agalsidase IgG subclasses a home-made...
Abstract Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern the management late-onset Pompe disease (LOPD). However, long-term effects ERT on humoral cellular responses to rhGAA are still poorly understood. To better understand impact immunogenicity ERT, clinical data blood samples from LOPD patients undergoing for >4 years (n = 28) or untreated 10) were collected analyzed. In treated patients, anti-rhGAA...
Abstract Background Acid sphingomyelinase deficiency (ASMD) or Niemann–Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 ( SMPD1 ) gene mutations. There need to increase the understanding of morbidity mortality across children adults diagnosed with ASMD. Methods This observational retrospective survey analysed medical records patients ASMD retrievable data from 27 hospitals in France, diagnosed/followed...
Backgroud Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). has historically been characterized progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a diminished life expectancy. nonclassical phenotype described an almost exclusive cardiac involvement. Specific therapies enzyme substitution or chaperone molecules are now available depending on mutation carried....
Acid sphingomyelinase deficiency (ASMD) is an inherited lysosomal disease characterised by a diffuse accumulation of sphingomyelin that cannot be catabolised into ceramide and phosphocholine. We studied the incidence cancer in ASMD patients. retrospectively reviewed medical records adult chronic visceral patients our cohort. Thirty-one (12 females, 19 males) were included with median age 48.7 y. (IQ: 30.3-55.1). Five cancers observed 1 female (breast cancer) 4 males (two lung cancers, one...