Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea.
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| Title: | Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea. |
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| Authors: | Saraceno E; Department of Public Health and Pediatrics Postgraduate School of Pediatrics, Regina Margherita Children Hospital, University of Turin Turin Italy., Faini AC; Immunogenetic and Transplant Biology Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy., Deaglio S; Immunogenetic and Transplant Biology Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy., Pellegrini M; Clinical Nutrition and Dietetics Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy., Buganza R; Pediatric Endocrinology Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy., Giuliani F; Neonatal Special Care Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy., Calvo PL; Pediatric Gastroenterology Unit Regina Margherita Children Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino Turin Italy., Pinon M; Pediatric Gastroenterology Unit Regina Margherita Children Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino Turin Italy. |
| Source: | JPGN reports [JPGN Rep] 2025 Dec 12; Vol. 7 (2), pp. 242-246. Date of Electronic Publication: 2025 Dec 12 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101773885 Publication Model: eCollection Cited Medium: Internet ISSN: 2691-171X (Electronic) Linking ISSN: 2691171X NLM ISO Abbreviation: JPGN Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2691-171X |
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| DOI: | 10.1002/jpr3.70127 |
