Consanguinity has highly complex and multifaceted aspects with sociocultural as well as
biological debates on its pros and cons. The biological upshot of consanguinity includes the …

Liver disease, occurring during pediatric or adult age, is often of undetermined cause. Some
cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders …

There are many different genetic diseases called inborn errors of metabolism (IEM) which
result from defective enzymes in the metabolic pathway. As a result, these defects either …

Fructose-1, 6-bisphosphatase (FBP1) deficiency is characterized by episodic acute crises of
lactic acidosis and ketotic hypoglycemia, manifesting as hyperventilation, apneic spells …

Background One of the aspects that helps to understand the genetic structure of a
population throughout its biological history is the description of its matrimonial practices …

Abstract Fructose-1, 6-bisphosphatase (FBPase) deficiency is an autosomal recessive
disorder characterized by impaired gluconeogenesis caused by mutations in the fructose-1 …

Abstract Fructose‐1, 6‐bisphosphatase deficiency is an autosomal recessive disorder of
gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic …

Objective. To determine the correlation between consanguineous marriages and dental
anomalies. Study Design. A cross‐sectional analytical study. Materials and Methods. This …

Background & Objectives: Ataxia is usually caused by cerebellar pathology or a decrease in
vestibular or proprioceptive afferent input to the cerebellum. It is characterized by …

Abstract Fructose-1, 6-bisphosphatase (FBPase) deficiency is an autosomal recessive
inborn error of gluconeogenesis. We aimed to investigate clinical and biochemical findings …