inborn error वाक्य
उदाहरण वाक्य
मोबाइल
- It was characterized as an inborn error of carbohydrate metabolism in 1908.
- His seminal text, " Inborn Errors of Metabolism " was published in 1923.
- "' Neonatal adrenoleukodystrophy "'is an inborn error of Zellweger spectrum.
- "' Ethylmalonic encephalopathy "'( EE ) is a rare recessive inborn error of metabolism.
- The work of Sanfilippo and his colleagues described eight inborn error of the mucopolysaccharide metabolism.
- Mutations in ETHE1 gene are thought to cause ethylmalonic encephalopathy, a rare inborn error of metabolism.
- Various inborn errors of metabolism are caused by deficiencies of enzymes necessary for glycogen synthesis or breakdown.
- They are a type of inborn errors of metabolism caused by malfunction of one of the enzymes.
- Familial types of disorders of fatty acid metabolism are generally classified as inborn errors of lipid metabolism.
- Many of the inborn errors of metabolism require avoidance or shortening of fasting intervals, or extra carbohydrates.
- Inborn errors of metabolism are not typically associated with malformation and subsequent cases have lacked such physical manifestations.
- Phenylketonuria, also known as PKU, is an inborn error of metabolism that can induce neurodevelopmental disorders in children.
- People with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism.
- The failure to effectively use these molecules accounts for the majority of the inborn errors of human carbohydrates metabolism.
- Many pediatric endocrinologists have interests and expertise in bone metabolism, lipid metabolism, adolescent gynecology, or inborn errors of metabolism.
- This is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase.
- When cases occur now, doctors are urged to look for a genetic disorder known as an inborn error of metabolism.
- Inborn errors in CBS result in hyperhomocysteinemia with complications in the cardiovascular system leading to early and aggressive arterial disease.
- Also, some inborn errors of metabolism are associated with autism, but probably account for less than 5 % of cases.
- The insufficiency of L-xylulose reductase activity causes an inborn error of metabolism disease characterized by excessive urinary excretion of L-xylulose.
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