Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan

[1]  I. Matsuda,et al.  Molecular basis of phenotypic variation in patients with argininemia , 1995, Human Genetics.

[2]  X. Estivill,et al.  The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence , 1995, Human Genetics.

[3]  I. Matsuda,et al.  The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. , 1997, American journal of medical genetics.

[4]  S. Bassett,et al.  Long-term treatment of girls with ornithine transcarbamylase deficiency. , 1996, The New England journal of medicine.

[5]  J. Vockley,et al.  Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia , 1994, Human mutation.

[6]  F. Endo,et al.  Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing. , 1993, The Journal of clinical investigation.

[7]  I. Matsuda,et al.  Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies. , 1991, American journal of medical genetics.

[8]  I. Matsuda,et al.  Estimated frequency of urea cycle enzymopathies in Japan. , 1991, American journal of medical genetics.

[9]  I. Matsuda,et al.  Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. , 1991, American journal of medical genetics.

[10]  S. Brusilow,et al.  Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. , 1984, The New England journal of medicine.