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Profound biotinidase deficiency in two asymptomatic adults
scientific article
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instance of
scholarly article
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title
Profound biotinidase deficiency in two asymptomatic adults
(English)
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main subject
biotinidase deficiency
1 reference
based on heuristic
inferred from title
author name string
B Wolf
series ordinal
1
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K Norrgard
series ordinal
2
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R J Pomponio
series ordinal
3
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D M Mock
series ordinal
4
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J R McVoy
series ordinal
5
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K Fleischhauer
series ordinal
6
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S Shapiro
series ordinal
7
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M G Blitzer
series ordinal
8
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J Hymes
series ordinal
9
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language of work or name
English
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publication date
28 November 1997
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published in
American Journal of Medical Genetics Part A
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volume
73
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issue
1
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page(s)
5-9
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cites work
Isoforms of human serum biotinidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
Cerebral metabolic change after treatment in biotinidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
A biotinidase Km variant causing late onset bilateral optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
Long-term auditory and visual complications of biotinidase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
Worldwide survey of neonatal screening for biotinidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
Biotinidase deficiency: initial clinical features and rapid diagnosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C5%3A%3AAID-AJMG2%3E3.0.CO%3B2-U
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19971128)73:1<5::AID-AJMG2>3.0.CO;2-U
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PubMed publication ID
9375914
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