Conjunctivitis is a commonly encountered condition in ophthalmology clinics throughout the
world. In the management of suspected cases of conjunctivitis, alarming signs for more …

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition
resulting in hepatic failure with comorbidities involving the renal and neurologic systems and …

Importance Early identification of individuals at elevated risk of developing chronic kidney
disease (CKD) could improve clinical care through enhanced surveillance and better …

Each Association appointed at least one author to serve on the writing group. The Chair of
the writing group was appointed by the AASLD. Members of the writing group were not …

Acute liver failure (ALF) is a dynamic clinical condition manifested by an abrupt onset of a
liver-based coagulopathy and biochemical evidence of hepatocellular injury resulting from …

Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global
dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized …

Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot
(DBS) specimens has been routinely used since the inception of newborn screening (NBS) …

Malnutrition and sarcopenia are common in patients with chronic liver disease and are
associated with increased risk of decompensation, infections, wait-list mortality and poorer …

Abstract Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine
metabolism. Without treatment, patients are at high risk of developing acute liver failure …

Abstract Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine
catabolism. TT1 is clinically characterized by acute liver failure, development of …