(Q44163806)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12359137%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

title

Seventeen novel mutations that cause profound biotinidase deficiency (English)

1 reference

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13 December 2019

11

1 reference

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13 December 2019

Ewa Pronicka

17

1 reference

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13 December 2019

Jolanta Sykut-Cegielska

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12359137%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

author name string

B Wolf

1

1 reference

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13 December 2019

K Jensen

2

1 reference

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13 December 2019

G Hüner

3

1 reference

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13 December 2019

M Demirkol

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12359137%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

T Baykal

5

1 reference

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13 December 2019

P Divry

6

1 reference

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13 December 2019

M-O Rolland

7

1 reference

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13 December 2019

C Perez-Cerdá

8

1 reference

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13 December 2019

M Ugarte

9

1 reference

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13 December 2019

R Straussberg

10

1 reference

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13 December 2019

E R Baumgartner

12

1 reference

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13 December 2019

T Suormala

13

1 reference

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13 December 2019

S Scholl

14

1 reference

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13 December 2019

A M Das

15

1 reference

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13 December 2019

S Schweitzer

16

1 reference

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13 December 2019

publication date

1 September 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12359137%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

13 December 2019

published in

1 reference

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13 December 2019

volume

77

1 reference

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13 December 2019

issue

1-2

1 reference

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13 December 2019

page(s)

108-111

1 reference

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Mutations in BTD causing biotinidase deficiency

13 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

Structure of the human biotinidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

Phenotypic variation in biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

Biotinidase deficiency: initial clinical features and rapid diagnosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

Reversible deafness caused by biotinidase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900149-X

7 January 2021

10.1016/S1096-7192(02)00149-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12359137%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

1 reference