The aldolase family members involved in metabolism and glycolysis are present in three
isoforms: ALDOA, ALDOB, and ALDOC. Aldolases are differentially expressed in human …

Most adverse reactions to food are patient self-reported and not based on validated tests but
nevertheless lead to dietary restrictions, with patients believing that these restrictions will …

Objective Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic
syndrome characterized by variable manifestations of systemic vasculitis, bone marrow …

Hereditary fructose intolerance (HFI) is a rare autosomal recessive inherited disorder that
occurs due to the mutation of enzyme aldolase B located on chromosome 9q22. 3. A …

Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism of autosomal
recessive inheritance caused by pathogenic variants in the ALDOB gene that lead to …

Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose
intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia …

Background Hereditary fructose intolerance (HFI) caused by aldolase B reduction or
deficiency that results in fructose metabolism disorder. The disease prevalence in the …

Background To determine the carrier frequency and pathogenic variants of common genetic
disorders in the north Indian population by using next generation sequencing (NGS) …

The present century is being hailed as the century for genetic therapies, and inborn errors of
metabolism is leading the way. As we gear ourselves for treating children with genetic and …

Background In almost half of patients with acute liver failure the cause is unknown, making
targeted treatment and decisions about liver transplantation a challenge. Monogenic …