LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly

Affiliations

• ¹ Biochemistry Laboratory, CHU Robert Debre, APHP, Paris, France.
• ² Reference Center for Inborn Error of Metabolism, Pediatrics Department, Necker and Robert-Debré Hospital, APHP, University of Paris, Paris, France.
• ³ Biochemistry Laboratory, CHU Bicetre, APHP, Le Kremlin Bicetre, France.
• ⁴ General Pediatrics, Infectious Disease and Internal Medicine Department, Robert-Debré Hospital, APHP, Paris, France.
• ⁵ Centre de Référence Maladies Génétiques à Expression Cutanée (MAGEC), Dermatology, Saint Louis Hospital, APHP, Paris, France.
• ⁶ Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Necker Hospital, APHP, University of Paris, Paris, France.
• ⁷ Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
• ⁸ Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France.
• ⁹ Inserm UMR_S1163, Institut Imagine, Paris, France.
• ¹⁰ LYPSIS2, Université Paris-Saclay, Chatenay-Malabry, France.