(Q35604837)

9 August 2017

title

Biotinidase deficiency: a survey of 10 cases (English)

1 reference

9 August 2017

main subject

biotinidase deficiency

1 reference

Wastell HJ

1

1 reference

9 August 2017

Bartlett K

series ordinal

2

1 reference

9 August 2017

Dale G

series ordinal

3

1 reference

9 August 2017

Shein A

series ordinal

4

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 October 1988

1 reference

Archives of Disease in Childhood

9 August 2017

published in

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9 August 2017

volume

63

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9 August 2017

issue

10

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9 August 2017

page(s)

1244-1249

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Inherited disorders of 3-methylcrotonyl CoA carboxylation

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Pathogenesis of Leigh's encephalomyelopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

The biotin-dependent enzymes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Long-term auditory and visual complications of biotinidase deficiency.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Biotinidase deficiency: presymptomatic treatment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Does screening by "Pap" smears help prevent cervical cancer? A case-control study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Biotinidase deficiency and the eye and ear

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Acetyl-CoA Carboxylase Deficiency: An Inborn Error of de Novo Fatty Acid Synthesis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779020

Studies on cultured fibroblasts from patients with defects of biotin‐dependent carboxylation

25 September 2018

1 reference

12 December 2020

Phenotypic variation in biotinidase deficiency

1 reference

12 December 2020

Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases)

1 reference

12 December 2020

Biotin holocarboxylase synthetase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.63.10.1244

1 reference

9 August 2017

1 reference

9 August 2017

1 reference