Biotinidase deficiency in juvenile multiple carboxylase deficiency (Q72558332)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6135890%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Biotinidase deficiency in juvenile multiple carboxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6135890%20AND%20SRC:MED&resulttype=core&format=json

multiple carboxylase deficiency

27 October 2019

main subject

1 reference

inferred from title

biotinidase deficiency

1 reference

J. Thoene

1

1 reference

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12 August 2023

B. Wolf

series ordinal

2

1 reference

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12 August 2023

language of work or name

English

0 references

publication date

1 August 1983

1 reference

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27 October 2019

13 August 1983

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6135890

full work available at URL

12 August 2023

https://api.elsevier.com/content/article/PII:S0140673683903641?httpAccept=text/xml

1 reference

10.1016/S0140-6736(83)90364-1

DOI

https://api.crossref.org/works/10.1016/S0140-6736(83)90364-1

https://api.elsevier.com/content/article/PII:S0140673683903641?httpAccept=text/plain

12 August 2023

1 reference

10.1016/S0140-6736(83)90364-1

DOI

https://api.crossref.org/works/10.1016/S0140-6736(83)90364-1

12 August 2023

1 reference

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27 October 2019

volume

2

1 reference

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27 October 2019

issue

8346

1 reference

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27 October 2019

page(s)

398

1 reference

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Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary Biotin

27 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

Defective biotin absorption in multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

Deficient biotinidase activity in late-onset multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

Phenotypic variation in biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

A simple method for determination of plasma and urinary biotin

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

Incidence and Significance of Hypovitaminemia in a Randomly Selected Municipal Hospital Population

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2883%2990364-1

7 January 2021

10.1016/S0140-6736(83)90364-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6135890%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference