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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.
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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  Data: Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea.
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  Data: <searchLink fieldCode="AU" term="%22Saraceno+E%22">Saraceno E</searchLink>; Department of Public Health and Pediatrics Postgraduate School of Pediatrics, Regina Margherita Children Hospital, University of Turin Turin Italy.<br /><searchLink fieldCode="AU" term="%22Faini+AC%22">Faini AC</searchLink>; Immunogenetic and Transplant Biology Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy.<br /><searchLink fieldCode="AU" term="%22Deaglio+S%22">Deaglio S</searchLink>; Immunogenetic and Transplant Biology Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy.<br /><searchLink fieldCode="AU" term="%22Pellegrini+M%22">Pellegrini M</searchLink>; Clinical Nutrition and Dietetics Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy.<br /><searchLink fieldCode="AU" term="%22Buganza+R%22">Buganza R</searchLink>; Pediatric Endocrinology Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy.<br /><searchLink fieldCode="AU" term="%22Giuliani+F%22">Giuliani F</searchLink>; Neonatal Special Care Unit Regina Margherita Children Hospital, AOU Città della Salute e della Scienza di Torino Turin Italy.<br /><searchLink fieldCode="AU" term="%22Calvo+PL%22">Calvo PL</searchLink>; Pediatric Gastroenterology Unit Regina Margherita Children Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino Turin Italy.<br /><searchLink fieldCode="AU" term="%22Pinon+M%22">Pinon M</searchLink>; Pediatric Gastroenterology Unit Regina Margherita Children Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino Turin Italy.
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  Data: <searchLink fieldCode="JN" term="%22101773885%22">JPGN reports</searchLink> [JPGN Rep] 2025 Dec 12; Vol. 7 (2), pp. 242-246. <i>Date of Electronic Publication: </i>2025 Dec 12 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101773885 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2691-171X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222691171X%22">2691171X </searchLink><i>NLM ISO Abbreviation: </i>JPGN Rep <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1002/jpr3.70127
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              Text: 2025 Dec 12
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