Dr. Wladimir MAUHIN
Fonction : Praticien Hospitalier
Groupe : SML
Biographie
Dr. Wladimir Mauhin is a specialist in Internal Medicine at La Croix Saint Simon Hospital in Paris, where he coordinates the national reference center for Lysosomal Diseases, with particular expertise in Fabry disease, acid sphingomyelinase deficiency, and adult mucopolysaccharidoses. As a clinician involved in clinical research, his main work focuses on personalizing the management of patients with lysosomal diseases by characterizing the different phenotypes of Fabry disease and studying the impact of antibodies developed against Fabry disease treatment, among other topics. He completed his PhD in Immunology on the inflammatory mechanisms associated with Fabry disease. An international expert, he serves as a reviewer for numerous peer-reviewed journals.
Publications associées
- Cochleovestibular involvement in patients with Fabry disease: data from the multicenter cohort FFABRY.
Eur Arch Otorhinolaryngol · 2022 - Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
J Clin Med. · 2022 - Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.
J Clin Med · 2022 - [Pulmonary phenotypes of inborn errors of metabolism].
Rev Mal Respir. · 2022 - Prevalence of Cancer in Acid Sphingomyelinase Deficiency.
J Clin Med · 2021 - [Fatal nutrient deficiencies after gastric bypass].
Rev Med Interne · 2021 - Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
J Pers Med · 2021 - Coagulation disorders during treatment with cefazolin and rifampicin: rare but dangerous.
J Bone Jt Infect · 2021 - [Fabry disease: A review].
Rev Med Interne. · 2021 - First case of acute pancreatitis related to SARS-CoV-2 infection.
Br J Surg · 2020 - Image Gallery: Palmar vascular lesions, a tool for diagnosis and prognosis in Fabry disease.
Br J Dermatol · 2020 - When and How to Diagnose Fabry Disease in Clinical Pratice.
Am J Med Sci · 2020 - A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.
J Clin Med · 2020 - Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
PLoS One · 2020 - [Fabry disease].
Rev Prat. · 2020 - Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease.
J Heart Lung Transplant · 2019 - CD8+(T-bet+) cells as a predominant biomarker for inclusion body myositis.
Autoimmun Rev · 2019 - Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy.
Mol Genet Genomic Med · 2019 - Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease.
Orphanet J Rare Dis · 2019 - [Glassy cell carcinoma of the uterine cervix: An aggressive type of cancer].
Rev Med Interne. · 2019