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PubPharm (12)
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
The placenta in Beckwith-Wiedemann syndrome : genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia
enthalten in:
Pathology
| 2012
von
Armes, J.
|
McGown, I.
|
Williams, M.
| +4
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6
Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?
enthalten in:
The Medical journal of Australia
| 2011
von
Wu, J.
|
Sudeep
|
Cowley, D.
| +3
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7
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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8
Investigating maturity onset diabetes of the young
enthalten in:
The Clinical biochemist. Reviews
| 2009
von
Nyunt, O.
|
Wu, J.
|
McGown, I.
| +5
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9
The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency
enthalten in:
The Clinical biochemist. Reviews
| 2009
von
Huynh, T.
|
McGown, I.
|
Cowley, D.
| +4
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10
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus
enthalten in:
Clinical endocrinology
| 2008
von
Chitturi, S.
|
Harris, M.
|
Thomsett, M.
| +6
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Thema: Journal Article
Medienart
12
Aufsätze
8
E-Artikel
8
E-Ressourcen
4
Gedruckte Aufsätze
Zeitschriftentitel
2
Clinical endocrinology
2
The Clinical biochemist. Reviews
1
Brain & development
1
Developmental medicine and child neurology
1
Journal of inherited metabolic disease
1
Pathology
1
Pediatric and developmental pathology : the off...
1
Pediatric diabetes
1
The Journal of biological chemistry
1
The Medical journal of Australia
Alle anzeigen ...
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Thema
Journal Article
6
Case Reports
5
Research Support, Non-U.S. Gov't
3
Adenylosuccinate Lyase
3
EC 4.3.2.2
2
19240-42-7
2
415SHH325A
2
4542-23-8
2
7LP2MPO46S
2
Adenosine
2
Adenosine Monophosphate
2
EC 1.14.14.16
2
K72T3FS567
2
S-Adenosylmethionine
2
Steroid 21-Hydroxylase
2
adenylosuccinate
2
succinyladenosine
1
113-79-1
1
30KYC7MIAI
1
360-97-4
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Erscheinungszeitraum
7
2010-2019
5
2000-2009
Erscheinungsjahr(e)
Von:
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Sprache
12
Englisch
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