Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients (Q35645704)

9 August 2017

title

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients (English)

1 reference

9 August 2017

Florence Habarou

5

0 references

Chris Ottolenghi

object named as

Chris Ottolenghi

15

0 references

Vassili Valayannopoulos

4

object named as

Vassili Valayannopoulos

1 reference

9 August 2017

Anais Brassier

1

1 reference

9 August 2017

Stephanie Gobin

2

1 reference

9 August 2017

Jean Baptiste Arnoux

3

1 reference

9 August 2017

Manoelle Kossorotoff

6

1 reference

9 August 2017

Aude Servais

7

1 reference

9 August 2017

Valerie Barbier

8

1 reference

9 August 2017

Sandrine Dubois

9

1 reference

9 August 2017

Guy Touati

10

1 reference

9 August 2017

Robert Barouki

11

1 reference

9 August 2017

Fabrice Lesage

12

1 reference

9 August 2017

Laurent Dupic

13

1 reference

9 August 2017

Jean Paul Bonnefont

14

1 reference

9 August 2017

Pascale De Lonlay

16

1 reference

9 August 2017

publication date

10 May 2015

1 reference

Orphanet Journal of Rare Diseases

9 August 2017

published in

1 reference

9 August 2017

volume

10

1 reference

9 August 2017

page(s)

58

1 reference

Creative Commons Attribution 4.0 International

9 August 2017

copyright license

start time

10 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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27 July 2018

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High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

27 July 2018

1 reference

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Human hepatocyte transplantation overview.

27 July 2018

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Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

27 July 2018

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27 July 2018

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Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University

27 July 2018

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Neurological outcome of patients with ornithine carbamoyltransferase deficiency

27 July 2018

1 reference

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Ornithine carbamoyltransferase deficiency

27 July 2018

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Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype

27 July 2018

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Recurrent brain edema in ornithine-transcarbamylase deficiency

27 July 2018

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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

27 July 2018

1 reference

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Urea cycle disorders: diagnosis, pathophysiology, and therapy.

27 July 2018

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Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome

27 July 2018

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Prospective treatment of urea cycle disorders.

27 July 2018

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Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism

27 July 2018

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Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults

27 July 2018

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Long-term outcome and intervention of urea cycle disorders in Japan.

25 September 2018

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Paediatric liver transplantation for metabolic disorders. Part 2: Metabolic disorders with liver lesions

25 September 2018

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Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

25 September 2018

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Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

25 September 2018

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Hereditary urea cycle diseases in Finland

25 September 2018

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Hepatocyte transplantation followed by auxiliary liver transplantation--a novel treatment for ornithine transcarbamylase deficiency

25 September 2018

1 reference

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Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

25 September 2018

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

25 September 2018

1 reference

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Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

25 September 2018

1 reference

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Ornithine transcarbamylase deficiency: a urea cycle defect

25 September 2018

1 reference

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Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4443534

Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism

25 September 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0266-1

Long-term outcome of patients with urea cycle disorders and the question of neonatal screening

21 January 2018

1 reference

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Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene

21 January 2018

1 reference

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Mutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0266-1

Diagnosis and treatment of urea cycle disorder in Japan

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25958381

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-015-0266-1

1 reference

Dimensions Publication ID

9 August 2017

1049837054

0 references

Fatcat ID

release_ro246ntbgzfv3cd5esnj6n2b74

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ro246ntbgzfv3cd5esnj6n2b74

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

4443534

1 reference

9 August 2017

1 reference