February 2019 in “Neoreviews” This case report details the diagnosis and management of argininosuccinate lyase deficiency in an infant, emphasizing initial symptoms, treatment strategies, and subsequent liver transplant leading to recovery.
3 citations
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May 2022 in “Pediatric Critical Care Medicine” This case report describes a 19-year-old patient with undiagnosed severe portopulmonary hypertension who experienced acute right ventricular failure and cardiac arrest following liver transplantation, subsequently managed with ECMO and a paracorporeal lung-assist device.
1 citations
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June 2022 in “Journal of Paediatrics and Child Health” This study observed that patients with paediatric-onset chronic hepatobiliary disease face a substantial health-care burden, highlighting challenges in transitioning this diverse group to adult care services.
January 2021 in “Pediatric Oncall” In this study, three patients with Type-1 autoimmune hepatitis experienced normalized liver enzymes and remission after six months of oral prednisolone treatment, while three others refused treatment.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” In this case study, an 8-day-old neonate with holocarboxylase synthetase deficiency showed dramatic improvement in lactic acidosis and overall clinical condition following biotin mega-dose therapy, highlighting the importance of early genetic testing and timely treatment in such metabolic disorders.
