(Q45265709)

English

Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result

scientific article published on 15 February 2005

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

biotinidase deficiency

1 reference

based on heuristic

inferred from title

object named as

Can Ficicioglu

3

0 references

author name string

Trevor L Hoffman

1

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

Erin M Simon

2

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

publication date

15 February 2005

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

164

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

298-301

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

Worldwide survey of neonatal screening for biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotinidase deficiency and the eye and ear

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotinidase deficiency: two cases of very early presentation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sensitive fluorimetric rate assay for biotinidase using a new derivative of biotin, biotinyl-6-aminoquinoline

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reversal of brain atrophy with biotin treatment in biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15711955

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-005-1629-8

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 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=Q45265709&oldid=2207180559"