(Q45108302)

English

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis

scientific article published in December 1997

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

biotinidase deficiency

1 reference

based on heuristic

inferred from title

author name string

Pomponio RJ

1

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Hymes J

2

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Reynolds TR

3

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Meyers GA

4

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Fleischhauer K

5

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Buck GA

6

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Wolf B

7

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

language of work or name

0 references

publication date

1 December 1997

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Pediatric Research

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

42

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

840-848

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

https://scigraph.springernature.com/pub.10.1203/00006450-199712000-00020

0 references

Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Biotinidase deficiency: initial clinical features and rapid diagnosis.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Isoforms of human serum biotinidase

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Worldwide survey of neonatal screening for biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Reversal of brain atrophy with biotin treatment in biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199712000-00020

21 January 2018

Identifiers

10.1203/00006450-199712000-00020

1 reference

Europe PubMed Central

PubMed publication ID

9 December 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 December 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=Q45108302&oldid=2066216479"