| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8390570 | Molecular Genetics and Metabolism Reports | 2018 | 4 Pages |
Abstract
Compound heterozygotes for c.1021CÂ >Â T (p.Arg341Trp) and a severely deficient FAH allele have mild hypersuccinylacetonemia and to date they have remained asymptomatic without treatment. It is important to determine the long term outcome of such individuals.
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Authors
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell, the Québec NTBC Study Group the Québec NTBC Study Group,