(Q41873494)

English

Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.

scientific article published on November 2014

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Sylvia Stockler-Ipsiroglu

2

object named as

Sylvia Stockler-Ipsiroglu

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

author name string

Clara Dm van Karnebeek

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Sylvia Stockler-Ipsiroglu

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

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publication date

1 November 2014

1 reference

Europe PubMed Central

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23 February 2020

Paediatrics & Child Health

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

19

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

469-471

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Comprehensive evaluation of the child with intellectual disability or global developmental delays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 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=4235446

5 June 2018

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Present conceptualization of early childhood neurodevelopmental disabilities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Genetic evaluation of intellectual disabilities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Demographic and epidemiological determinants of healthcare costs in Netherlands: cost of illness study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

5 June 2018

Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

18 August 2018

Yield of additional metabolic studies in neurodevelopmental disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

18 August 2018

Neurometabolic testing in developmental delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4235446

18 August 2018

Naming, defining, and classifying in mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25414581

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/PCH/19.9.469

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

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