(Q35004859)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25026867%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment (English)

1 reference

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9 March 2020

3

1 reference

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9 March 2020

Giancarlo la Marca

12

1 reference

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9 March 2020

Amelia Morrone

15

1 reference

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9 March 2020

14

Renzo Guerrini

1 reference

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9 March 2020

11

Elisabetta Pasquini

1 reference

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9 March 2020

author name string

Catia Cavicchi

1

1 reference

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9 March 2020

Maria Donati

2

1 reference

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9 March 2020

Miriam Rigoldi

4

1 reference

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9 March 2020

Mauro Bernardi

5

1 reference

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9 March 2020

Francesca Orfei

6

1 reference

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9 March 2020

Nicolò Gentiloni Silveri

7

1 reference

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9 March 2020

Aniello Colasante

8

1 reference

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9 March 2020

Silvia Funghini

9

1 reference

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9 March 2020

Serena Catarzi

10

1 reference

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9 March 2020

Sean Mooney

13

1 reference

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9 March 2020

publication date

16 July 2014

1 reference

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Orphanet Journal of Rare Diseases

9 March 2020

published in

1 reference

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9 March 2020

volume

9

1 reference

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9 March 2020

page(s)

105

1 reference

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Creative Commons Attribution 4.0 International

9 March 2020

copyright license

start time

16 July 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13023-014-0105-9

0 references

cites work

Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Analysis of molecular recognition features (MoRFs)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Unmasked adult-onset urea cycle disorders in the critical care setting

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

MAFFT version 5: improvement in accuracy of multiple sequence alignment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Adult onset ornithine transcarbamylase deficiency: an unusual cause of semantic disorders.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Human ornithine transcarbamylase: crystallographic insights into substrate recognition and conformational changes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Portal-systemic encephalopathy in non-cirrhotic patients: classification of clinical types, diagnosis and treatment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Automated analysis of interatomic contacts in proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Hyperammonemia after chemotherapy in an adolescent with hepatocellular carcinoma.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Knowledge-based protein secondary structure assignment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Natural history of symptomatic partial ornithine transcarbamylase deficiency.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Late-onset ornithine transcarbamylase deficiency in male patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Effects of high doses of glucocorticoids on free amino acids, ribosomes and protein turnover in human muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Coagulopathy unmasking hepatic failure in a child with ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Stupor in an adolescent following Yom Kippur fast, due to late-onset ornithine transcarbamylase deficiency.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4304088

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations

26 October 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0105-9

Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery

21 January 2018

1 reference

12 December 2020

Monosodium L-glutamate added to a high-energy, high-protein liquid diet promotes gastric emptying

1 reference

12 December 2020

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids

1 reference

12 December 2020

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation

1 reference

12 December 2020

Hyperammonia possibly due to corticosteroids

1 reference

12 December 2020

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

1 reference

12 December 2020

Heterogeneity of patients with late onset ornithine transcarbamylase deficiency

1 reference

12 December 2020

Seven new mutations in the human ornithine transcarbamylase gene

1 reference

12 December 2020

Menstrual cycle and gonadal steroid effects on symptomatic hyperammonaemia of urea-cycle-based and idiopathic aetiologies

1 reference

12 December 2020

Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency

1 reference

12 December 2020

Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile

1 reference

12 December 2020

10.1186/S13023-014-0105-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25026867%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 March 2020

0 references

1 reference

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9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25026867%20AND%20SRC:MED&resulttype=core&format=json