Associated Papers
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
39425040 (PubMed )
Supplement: 12884_2024_6878_MOESM3_ESM.xlsx › Table_S5
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M et al.
Human Mutation, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Cysteamine revisited: repair of arginine to cysteine mutations.
Gallego-Villar L et al.
Journal of Inherited Metabolic Disease, 2017
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.
Ganetzky RD et al.
Jimd Reports, 2017
Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.
Inauen C et al.
Molecular Diagnosis & Therapy, 2016
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Hu L et al.
Journal of Inherited Metabolic Disease, 2015
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E et al.
Orphanet Journal of Rare Diseases, 2014
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C et al.
Human Mutation, 2014
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Engel K et al.
Journal of Inherited Metabolic Disease, 2012
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
Mercimek-Mahmutoglu S et al.
Molecular Genetics and Metabolism, 2010
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Linnebank M et al.
Human Genetics, 2002
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Kleijer WJ et al.
Journal of Inherited Metabolic Disease, 2002
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