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

Author:

Taibi Ludmia1,Schlemmer Dimitri1,Bouchereau Juliette2,Causson Claudine3,Pichard Samia2,Bourrat Emmanuelle45,Melki Isabelle4678ORCID,Schiff Manuel29ORCID,Benoist Jean-François1210,Imbard Apolline1210

Affiliation:

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

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Prolidase deficiency: A novel PEPD missense variant in exon 2;American Journal of Medical Genetics Part A;2023-02-09

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