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PubPharm (5)
1
A novel INS mutation in a family with maturity-onset diabetes of the young : Variable insulin secretion and putative mechanisms
enthalten in:
Pediatric diabetes
| 2018
von
Johnson, S.
|
McGown, I.
|
Oppermann, U.
| +3
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2
Treatment of Lesch-Nyhan disease with S-adenosylmethionine : experience with five young Malaysians, including a girl
enthalten in:
Brain & development
| 2014
von
Chen, B.
|
Balasubramaniam, S.
|
McGown, I.
| +5
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3
Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method
enthalten in:
Developmental medicine and child neurology
| 2013
von
van Werkhoven, M.
|
Duley, J.
|
McGown, I.
| +3
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4
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development
enthalten in:
Clinical endocrinology
| 2013
von
Wu, J.
|
McGown, I.
|
Lin, L.
| +7
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5
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations
enthalten in:
Journal of inherited metabolic disease
| 2010
von
Chen, B.
|
McGown, I.
|
Thong, M.
| +5
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1
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Thema: Research Support, Non-U.S. Gov't
Medienart
5
Aufsätze
5
E-Artikel
5
E-Ressourcen
Zeitschriftentitel
1
Brain & development
1
Clinical endocrinology
1
Developmental medicine and child neurology
1
Journal of inherited metabolic disease
1
Pediatric diabetes
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Thema
5
Journal Article
Research Support, Non-U.S. Gov't
4
Case Reports
2
4542-23-8
2
7LP2MPO46S
2
Adenosine
2
Adenylosuccinate Lyase
2
EC 4.3.2.2
2
K72T3FS567
2
S-Adenosylmethionine
2
succinyladenosine
1
19240-42-7
1
360-97-4
1
3XMK78S47O
1
415SHH325A
1
Adenosine Monophosphate
1
Aggression
1
Aminoimidazole Carboxamide
1
Biomarkers
1
Dystonia
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Erscheinungszeitraum
1
2018
1
2014
2
2013
1
2010
Erscheinungsjahr(e)
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Sprache
5
Englisch
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