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Fontan-associated liver disease: A review

Journal of cardiology, 2019-09, Vol.74 (3), p.223-232

2019

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Large-scale proteomics identifies MMP-7 as a sentinel of epithelial injury and of biliary atresia

Science translational medicine, 2017-11, Vol.9 (417)

2017

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Biliary Atresia Remnants Revisited: Myogenesis, Hepatic Duct-Like Structures, and Fate of Peribiliary Glands

Pediatric and developmental pathology, 2023-05, Vol.26 (3), p.259-272

2023

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Inborn Errors of Bile Acid Metabolism

Clinics in liver disease, 2018-11, Vol.22 (4), p.671-687

2018

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Zebrafish abcb11b mutant reveals strategies to restore bile excretion impaired by bile salt export pump deficiency

Hepatology (Baltimore, Md.), 2018-04, Vol.67 (4), p.1531-1545

2018

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Hepatic LDL receptor-related protein-1 deficiency alters mitochondrial dynamics through phosphatidylinositol 4,5-bisphosphate reduction

The Journal of biological chemistry, 2021-01, Vol.296, p.100370-100370, Article 100370

2021

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Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

PloS one, 2016-08, Vol.11 (8), p.e0156738-e0156738

2016

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Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes

Digestive diseases and sciences, 2020-04, Vol.65 (4), p.1239-1251

2020

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Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders

Journal of pediatric gastroenterology and nutrition, 2017-09, Vol.65 (3), p.321-326

2017

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Key Histopathologic Features of Liver Biopsies That Distinguish Biliary Atresia From Other Causes of Infantile Cholestasis and Their Correlation With Outcome: A Multicenter Study

The American journal of surgical pathology, 2016-12, Vol.40 (12), p.1601-1615

2016

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Cystic Biliary Atresia and Choledochal Cysts Are Distinct Histopathologic Entities

The American journal of surgical pathology, 2017-03, Vol.41 (3), p.354-364

2017

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Design and Validation of the Biliary Atresia Research Consortium Histologic Assessment System for Cholestasis in Infancy

Clinical gastroenterology and hepatology, 2011-04, Vol.9 (4), p.357-362.e2

2011

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Hypoplasia of Extrahepatic Biliary Tree and Intrahepatic Cholangiolopathy in Cystic Fibrosis Imperfectly Mimic Biliary Atresia in 4 Infants With Cystic Fibrosis and Kasai Portoenterostomy

The American journal of surgical pathology, 2021-11, Vol.45 (11), p.1499-1508

2021

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Genetic Defects in Bile Acid Conjugation Cause Fat-Soluble Vitamin Deficiency

Gastroenterology (New York, N.Y. 1943), 2013-05, Vol.144 (5), p.945-955.e6

2013

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Two Case Reports of FGF23-Induced Hypophosphatemia in Childhood Biliary Atresia

Pediatrics (Evanston), 2016-08, Vol.138 (2)

2016

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Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules

Human pathology, 2016-03, Vol.49, p.27-32

2016

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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

Genetics in medicine, 2024-07, Vol.26 (7), p.101125, Article 101125

2024

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Mechanisms of Disease: inborn errors of bile acid synthesis

Nature clinical practice. Gastroenterology & hepatology, 2008-08, Vol.5 (8), p.456-468

2008

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Calretinin-Immunoreactive Hypoinnervation in down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation

Pediatric and developmental pathology, 2016-03, Vol.19 (2), p.87-93

2016

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Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders

Case reports in gastroenterology, 2018-05, Vol.12 (2), p.360-372

2018

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Inborn Errors of Bile Acid Metabolism

Seminars in liver disease, 2007-08, Vol.27 (3), p.282-294

2007

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Nucleophosmin/B23 Is a Target of CDK2/Cyclin E in Centrosome Duplication

Cell, 2000-09, Vol.103 (1), p.127-140

2000

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Association between Testicular Microlithiasis and Testicular Neoplasia: Large Multicenter Study in a Pediatric Population

Radiology, 2017-11, Vol.285 (2), p.576-583

2017

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Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders

Journal of pediatric gastroenterology and nutrition, 2018-02, Vol.66 (2), p.e57-e59

2018

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Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis

Journal of pediatric genetics (Birmingham, Ala.), 2023-09, Vol.12 (3), p.246-253

2023

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Fontan-associated liver disease: A review

Large-scale proteomics identifies MMP-7 as a sentinel of epithelial injury and of biliary atresia

Biliary Atresia Remnants Revisited: Myogenesis, Hepatic Duct-Like Structures, and Fate of Peribiliary Glands

Inborn Errors of Bile Acid Metabolism

Zebrafish abcb11b mutant reveals strategies to restore bile excretion impaired by bile salt export pump deficiency

Hepatic LDL receptor-related protein-1 deficiency alters mitochondrial dynamics through phosphatidylinositol 4,5-bisphosphate reduction

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes

Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders

Key Histopathologic Features of Liver Biopsies That Distinguish Biliary Atresia From Other Causes of Infantile Cholestasis and Their Correlation With Outcome: A Multicenter Study

Cystic Biliary Atresia and Choledochal Cysts Are Distinct Histopathologic Entities

Design and Validation of the Biliary Atresia Research Consortium Histologic Assessment System for Cholestasis in Infancy

Hypoplasia of Extrahepatic Biliary Tree and Intrahepatic Cholangiolopathy in Cystic Fibrosis Imperfectly Mimic Biliary Atresia in 4 Infants With Cystic Fibrosis and Kasai Portoenterostomy

Genetic Defects in Bile Acid Conjugation Cause Fat-Soluble Vitamin Deficiency

Two Case Reports of FGF23-Induced Hypophosphatemia in Childhood Biliary Atresia

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules

Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

Mechanisms of Disease: inborn errors of bile acid synthesis

Calretinin-Immunoreactive Hypoinnervation in down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation

Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders

Inborn Errors of Bile Acid Metabolism

Nucleophosmin/B23 Is a Target of CDK2/Cyclin E in Centrosome Duplication

Association between Testicular Microlithiasis and Testicular Neoplasia: Large Multicenter Study in a Pediatric Population

Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders

Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis

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