Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores.

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Title: Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores.
Authors: Paschall A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC., Koch RL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC., Mavis AM; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Duke University Medical Center, Durham, NC., Flores LS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC., Gupta RT; Division of Abdominal Imaging, Department of Radiology, Duke University Medical Center, Durham, NC., Jeck WR; Department of Pathology, Duke University Medical Center, Durham, NC., de Souza CFM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil., de Oliveira BM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil., Sood V; Department of Pediatric Hepatology and Liver Transplantation, Institute of Liver and Biliary Sciences, New Delhi, India., Alam S; Department of Pediatric Hepatology and Liver Transplantation, Institute of Liver and Biliary Sciences, New Delhi, India., Porta G; Hepatology and Liver Transplant Unit, Menino Jesus Hospital, Brazil., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, India., Abdenur J; Division of Metabolic Disorders, Department of Pediatrics, Children's Hospital of Orange County, Orange, CA., Rikhi A; Duke Clinical Research Institute, Duke University Medical Center, Durham, NC.; Parexel International, Bonney Lake, WA., Doxey J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC., Muir AJ; Division of Gastroenterology, Department of Medicine, Duke University Medical Center, Durham, NC., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
Source: Genetics in medicine open [Genet Med Open] 2025 Sep 10; Vol. 4, pp. 103455. Date of Electronic Publication: 2025 Sep 10 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
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  Data: Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores.
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  Data: <searchLink fieldCode="AU" term="%22Paschall+A%22">Paschall A</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Koch+RL%22">Koch RL</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Mavis+AM%22">Mavis AM</searchLink>; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Flores+LS%22">Flores LS</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Gupta+RT%22">Gupta RT</searchLink>; Division of Abdominal Imaging, Department of Radiology, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Jeck+WR%22">Jeck WR</searchLink>; Department of Pathology, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22de+Souza+CFM%22">de Souza CFM</searchLink>; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Oliveira+BM%22">de Oliveira BM</searchLink>; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Sood+V%22">Sood V</searchLink>; Department of Pediatric Hepatology and Liver Transplantation, Institute of Liver and Biliary Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Alam+S%22">Alam S</searchLink>; Department of Pediatric Hepatology and Liver Transplantation, Institute of Liver and Biliary Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Porta+G%22">Porta G</searchLink>; Hepatology and Liver Transplant Unit, Menino Jesus Hospital, Brazil.<br /><searchLink fieldCode="AU" term="%22Nampoothiri+S%22">Nampoothiri S</searchLink>; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, India.<br /><searchLink fieldCode="AU" term="%22Gupta+N%22">Gupta N</searchLink>; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, India.<br /><searchLink fieldCode="AU" term="%22Abdenur+J%22">Abdenur J</searchLink>; Division of Metabolic Disorders, Department of Pediatrics, Children's Hospital of Orange County, Orange, CA.<br /><searchLink fieldCode="AU" term="%22Rikhi+A%22">Rikhi A</searchLink>; Duke Clinical Research Institute, Duke University Medical Center, Durham, NC.; Parexel International, Bonney Lake, WA.<br /><searchLink fieldCode="AU" term="%22Doxey+J%22">Doxey J</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Muir+AJ%22">Muir AJ</searchLink>; Division of Gastroenterology, Department of Medicine, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Kishnani+PS%22">Kishnani PS</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
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