Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes

Genetic diseases are a major cause of neonatal cholestasis, and GGT levels serve as a useful diagnostic tool in differentiating subtypes. The increasing availability of genetic testing has improved early diagnosis and personalised management. Expanded genetic testing in clinical practice is critical for timely and accurate diagnosis of these rare disorders.

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Publication Details

Journal
Journal of Paediatrics and Child Health
Published
2025-04-29
DOI
https://doi.org/10.1111/jpc.70072
Citations
3
Primary Topic
Pediatric Hepatobiliary Diseases and Treatments
Type
article
Field-Weighted Citation Impact
6.02
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article

Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes

Sinan Sarı, Neslihan Gürcan Kaya, Ödül Eğritaş Gürkan, Buket Dalgıç et al.
3 citations
Journal of Paediatrics and Child Health
Pediatric Hepatobiliary Diseases and Treatments
6.02
article

Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes

Sinan Sarı, Neslihan Gürcan Kaya, Ödül Eğritaş Gürkan, Buket Dalgıç, Hakan Öztürk
article en
3 citations

Abstract

Genetic diseases are a major cause of neonatal cholestasis, and GGT levels serve as a useful diagnostic tool in differentiating subtypes. The increasing availability of genetic testing has improved early diagnosis and personalised management. Expanded genetic testing in clinical practice is critical for timely and accurate diagnosis of these rare disorders.

Journal of Paediatrics and Child HealthVol. 61(7)
Ministry of Health (TR), Gazi University (TR)
Good health and well-being
Openalex Percentile: Top 4%
Pediatric Hepatobiliary Diseases and Treatments
6.02
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