(Q46546568)

English

Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients

scientific article published on 11 June 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients (English)

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

0 references

biotinidase deficiency

1 reference

based on heuristic

inferred from title

author name string

Shrinivas Desai

1

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

Karthik Ganesan

2

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

Anaita Hegde

3

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

publication date

11 June 2008

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

Pediatric Radiology

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

38

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

8

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

848-856

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

https://scigraph.springernature.com/pub.10.1007/s00247-008-0904-z

0 references

Biotin dependency due to a defect in biotin transport

1 reference

https://api.crossref.org/works/10.1007%2FS00247-008-0904-Z

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebral metabolic changes in biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Worldwide survey of neonatal screening for biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuropathology of biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

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/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotinidase deficiency: a treatable leukoencephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delayed-onset profound biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotinidase deficiency: a rare cause of laryngeal stridor

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Basal ganglia calcifications in a case of biotinidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotinidase deficiency: clinical and MRI findings consistent with myelopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/18545994

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/18545994

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/18545994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00247-008-0904-Z

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

23 December 2017

http://europepmc.org/abstract/MED/18545994

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