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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
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Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.
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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
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Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
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Inhibition of defective adenylosuccinate lyase by HNE: a neurological disease that may be affected by oxidative stress.
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Biofactors (oxford, England), 2005
The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies.
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Protein Science : a Publication of the Protein Society, 2003
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
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Human Molecular Genetics, 2000
Adenylosuccinate lyase deficiency: from the clinics to molecular biology.
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Advances in Experimental Medicine and Biology, 2000
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
Marie S et al.
Human Mutation, 1999
Adenylosuccinate lyase deficiency.
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