Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria-Reference-Cited by-同舟云学术

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Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

Published:2010-05 Issue:1 Volume:100 Page:24-28
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Mercimek-Mahmutoglu S.,Moeslinger D.,Häberle J.,Engel K.,Herle M.,Strobl M.W.,Scheibenreiter S.,Muehl A.,Stöckler-Ipsiroglu S.

Funder

Scientific Hospital Supply, Heilbronn, Germany

Arbeitsgemeinschaft fuer Paediatrische Stoffwechselstoerungen

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

1. Urea cycle enzymes;Brusilow,2001

2. Mild variant of argininosuccinic aciduria;Schutgens;J. Inherit. Metab. Dis.,1974

3. Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation;von Wendt;Ann. Clin. Res.,1982

4. Late onset argininosuccinic aciduria in a paranoid retardate;Lagas;Biol. Psychiatry,1991

5. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in 5 unrelated families;Kleijer;J. Inherit. Metab. Dis.,2002

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1. Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice;Nutrients;2023-12-20

2. To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening;Clinical Dysmorphology;2023-10-13

3. The diagnostic challenge of mild citrulline elevation at newborn screening;Molecular Genetics and Metabolism;2022-04

4. Neonatal Screening;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2022

5. Iron Overload, Wilson Disease, and Other Genetic Liver Diseases;Non-Neoplastic Diseases of the Liver;2022-01

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