(Q33805398)

English

Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

29 July 2017

Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland (English)

1 reference

Europe PubMed Central

29 July 2017

0 references

0 references

1 reference

based on heuristic

inferred from title

0 references

3

object named as

Daniela Karall

0 references

author name string

Susanne Nettesheim

1

1 reference

Europe PubMed Central

29 July 2017

Stefan Kölker

2

1 reference

Europe PubMed Central

29 July 2017

Daniela Karall

3

1 reference

Europe PubMed Central

29 July 2017

Johannes Häberle

4

1 reference

Europe PubMed Central

29 July 2017

Roland Posset

5

1 reference

Europe PubMed Central

29 July 2017

Georg F Hoffmann

6

1 reference

Europe PubMed Central

29 July 2017

Beate Heinrich

7

1 reference

Europe PubMed Central

29 July 2017

Florian Gleich

8

1 reference

Europe PubMed Central

29 July 2017

Sven F Garbade

9

1 reference

Europe PubMed Central

29 July 2017

Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)

10

1 reference

Europe PubMed Central

29 July 2017

language of work or name

0 references

publication date

15 June 2017

1 reference

Europe PubMed Central

29 July 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

29 July 2017

12

1 reference

Europe PubMed Central

29 July 2017

111

1 reference

Europe PubMed Central

29 July 2017

1

1 reference

Europe PubMed Central

29 July 2017

https://scigraph.springernature.com/pub.10.1186/s13023-017-0661-x

0 references

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

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=5472961

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

The incidence of urea cycle disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Suggested guidelines for the diagnosis and management of urea cycle disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Urea cycle defects: management and outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

Capture-recapture methods in epidemiology: methods and limitations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

4 July 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

Residual-Based Shadings for Visualizing (Conditional) Independence

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

Hereditary urea cycle diseases in Finland

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0661-X

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472961

30 October 2018

Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28619060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma ammonia concentrations in newborns and children

1 reference

https://pubmed.ncbi.nlm.nih.gov/28619060

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/28619060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13023-017-0661-X

1 reference

Europe PubMed Central

29 July 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q33805398&oldid=1567340157"