The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
about
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementationTwo hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.The business of genomic testing: a survey of early adopters.Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Citrullinaemia type I: a common mutation in the Pacific Island population.
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The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
description
article
@en
im November 2008 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 2008
@uk
name
The role of molecular testing ...... t of hypomorphic citrullinemia
@en
The role of molecular testing ...... t of hypomorphic citrullinemia
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type
label
The role of molecular testing ...... t of hypomorphic citrullinemia
@en
The role of molecular testing ...... t of hypomorphic citrullinemia
@nl
prefLabel
The role of molecular testing ...... t of hypomorphic citrullinemia
@en
The role of molecular testing ...... t of hypomorphic citrullinemia
@nl
P2093
P2860
P356
P1476
The role of molecular testing ...... t of hypomorphic citrullinemia
@en
P2093
Annette Feigenbaum
Catherine E Keegan
Gregory M Rice
James Gibson
Jon A Wolff
Keith Vaux
Michael J Gambello
Pamela Trapane
Patricia Ward
P2860
P304
P356
10.1002/AJMG.A.32527
P407
P577
2008-11-01T00:00:00Z