Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan (Q74826549)

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13 November 2019

title

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

1 reference

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13 November 2019

1 reference

T Uchino

1

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13 November 2019

F Endo

series ordinal

2

1 reference

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13 November 2019

I Matsuda

series ordinal

3

1 reference

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13 November 2019

publication date

1 January 1998

1 reference

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Journal of Inherited Metabolic Disease

13 November 2019

published in

1 reference

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13 November 2019

volume

21 Suppl 1

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13 November 2019

page(s)

151-159

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https://scigraph.springernature.com/pub.10.1023/a:1005374027693

13 November 2019

exact match

0 references

cites work

Molecular basis of phenotypic variation in patients with argininemia

1 reference

12 December 2020

Long-term treatment of girls with ornithine transcarbamylase deficiency

1 reference

12 December 2020

Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies.

1 reference

12 December 2020

Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia

1 reference

12 December 2020

Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

1 reference

12 December 2020

The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency

1 reference

12 December 2020

Estimated frequency of urea cycle enzymopathies in Japan

1 reference

12 December 2020

The ornithine transcarbamylase (OTC) gene: Mutations in 50 Japanese families with OTC deficiency

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005374027693

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005374027693

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686352%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 November 2019

0 references

1 reference