Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families-Reference-Cited by-同舟云学术

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

Published:2002-09 Issue:5 Volume:25 Page:399-410
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kleijer W. J.¹,Garritsen V. H.¹,Linnebank M.²,Mooyer P.³,Huijmans J. G. M.¹,Mustonen A.⁴,Simola K. O. J.⁴,Arslan-Kirchner M.⁵,Battini R.⁶,Briones P.⁷,Cardo E.⁸,Mandel H.⁹,Tschiedel E.²,Wanders R. J. A.³,Koch H. G.²

Affiliation:

1. ; Department of Clinical Genetics; Erasmus Medical Centre; PO Box 1738 Rotterdam 3000DR The Netherlands

2. ; Department of Pediatrics; University Hospital; Muenster Germany

3. ; Laboratory of Genetic Metabolic Diseases; Academic Medical Center; Amsterdam The Netherlands

4. ; Department of Clinical Genetics; University Hospital; Tampere Finland

5. ; Department of Human Genetics; University of Hannover; Germany

6. Division of Child Neurology and Psychiatry; IRCCS Stella Maris and University of Pisa; Italy

7. Instituto de Bioquimica Clinica; Corporació Sanitària y CSIC; Barcelona

8. ; Hospital de Son Llatzer; Palma de Mallorca Spain

9. ; Department of Pediatrics; Rambam Medical Center; Haifa Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1020108002877/fullpdf

Reference20 articles.

1. Analysis of naturally occuring and site-directed mutations in the argininosuccinate lyase gene;Barbosa;J Biol Chem,1991

2. Improved method for the antenatal diagnosis of citrullinemia;Cathelineau;Clin Chim Acta,1981

3. Argininosuccinic aciduria: prenatal studies in a family at risk;Fleischer;Am J Hum Genet,1979

4. Argininosuccinic aciduria: clinical and biochemical findings in three children with the late oneset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines;Gerrits;Neuropediatrics,1993

Cited by 42 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises;Pediatric Neurology;2024-10

2. Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors;The American Journal of Human Genetics;2024-04

3. Aciduria argininosuccínica: informe de un caso de inicio neonatal;Archivos Argentinos de Pediatria;2021-10-01

4. Approach to Patients with Neurometabolic Diseases Who Show Characteristic Signs and Symptoms;IRAN J CHILD NEUROL;2020

5. Urea cycle disorders;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020