Citrullinemia definition

Citrullinemia means a congenital disorder characterized by an inability to convert the amino acid citrulline and aspartic acid into argininosuccinic acid due to defective argininosuccinate synthetase activity.
Citrullinemia means a congenital disorder character- ized by an inability to convert the amino acid citrulline and aspartic acid into argininosuccinic acid due to defec- tive argininosuccinate synthetase activity.

Examples of Citrullinemia in a sentence

  • Amino acidemias GeneralBesides Hyperphenylalaninemia/Phenylketonuria a range of other amino acidemias are screened for using ms/ms technology, such as Argeninemia, Argininosuccinic aciduria, Citrullinemia, type I and type II, Homocystinuria, Hypermethioniemias type I, III, Maple syrup urine disease and Tyrosinemias type I-III.

  • Each target and objective is lead by the specialist in the area concerned.

  • It is recommended that assessment is done locally at the institutions with the use of external industry assessors and the teacher responsible for the training.

  • Difference between the actual results and estimates are recognized in the period in which the results are knownƒmaterialized.

  • Citrullinemia may be thought in the differential diagnosis of inborn errors of metabolism accompanied by hiccups.

  • Citrullinemia type I: molecular screening of the ASS1 gene by exonic …198 sequencing and targeted mutation analysis CONCLUSION …206 APPENDIX Permission to use third party copyright material …218 BIBLIOGRAPHY …220 INTRODUCTION A Matryoshka is a Russian nesting doll, a set of carved wooden dolls of decreasing size that are placed one inside the other.

  • Arginase deficiency (ARG); (B) Argininosuccinate lyase deficiency (ASA); and (C) Citrullinemia, Type I (CIT I).

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