(Q37189404)

18 August 2017

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. (English)

1 reference

18 August 2017

Vassili Valayannopoulos

3

object named as

Vassili Valayannopoulos

1 reference

18 August 2017

Caroline Unsinn

1

1 reference

18 August 2017

Anibh Das

2

1 reference

18 August 2017

Eva Thimm

4

1 reference

18 August 2017

Skadi Beblo

5

1 reference

18 August 2017

Alberto Burlina

6

1 reference

18 August 2017

Vassiliki Konstantopoulou

7

1 reference

18 August 2017

Sebene Mayorandan

8

1 reference

18 August 2017

Pascale de Lonlay

9

1 reference

18 August 2017

Jörg Rennecke

10

1 reference

18 August 2017

Jens Derbinski

11

1 reference

18 August 2017

Georg F Hoffmann

12

1 reference

18 August 2017

Johannes Häberle

13

1 reference

18 August 2017

19 August 2016

1 reference

Orphanet Journal of Rare Diseases

18 August 2017

1 reference

18 August 2017

11

1 reference

18 August 2017

116

1 reference

18 August 2017

1

1 reference

https://scigraph.springernature.com/pub.10.1186/s13023-016-0493-0

18 August 2017

0 references

cites work

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

A longitudinal study of urea cycle disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

The incidence of urea cycle disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Ammonia toxicity to the brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Clinical practice: the management of hyperammonemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Current concepts in the pathogenesis of urea cycle disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Ammonia toxicity and its prevention in inherited defects of the urea cycle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Neurological implications of urea cycle disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Urea cycle disorders: clinical presentation outside the newborn period.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Urea cycle defects: management and outcome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Cognitive development in children with inborn errors of urea synthesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Effects of hyperammonaemia on brain function

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Ammonia toxicity to the brain: effects on creatine metabolism and transport and protective roles of creatine

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4991093

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

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13023-016-0493-0

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27538463

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27538463

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-016-0493-0

1 reference

Dimensions Publication ID

18 August 2017

0 references

1 reference

18 August 2017

1 reference