(Q33677635)

English

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult

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Europe PubMed Central

PubMed publication ID

28 July 2017

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Matsuda I

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Matsuura T

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Nishiyori A

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Komaki S

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Hoshide R

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Matsumoto T

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Funakoshi M

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Kiwaki K

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Endo F

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Hata A

10

1 reference

Europe PubMed Central

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28 July 2017

Shimadzu M

11

1 reference

Europe PubMed Central

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28 July 2017

Yoshino M

12

1 reference

Europe PubMed Central

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28 July 2017

language of work or name

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publication date

1 August 1996

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Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

33

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Europe PubMed Central

PubMed publication ID

28 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

645-648

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

Evidence of inherited urea cycle defect in a case of fatal valproate toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

Nucleotide sequence of the ARG3 gene of the yeast Saccharomyces cerevisiae encoding ornithine carbamoyltransferase. Comparison with other carbamoyltransferases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

Structure of the human ornithine transcarbamylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

Ornithine transcarbamylase deficiency in male adolescence and adulthood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

21 June 2018

Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

30 October 2018

Mutations and polymorphisms in the human ornithine transcarbamylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050697

30 October 2018

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven new mutations in the human ornithine transcarbamylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Valproate toxicity and ornithine carbamoyltransferase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimated frequency of urea cycle enzymopathies in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.8.645

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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