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PubPharm (16)
1
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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2
Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl
enthalten in:
Brain and development
| 2014
von
Chen, B.
|
Balasubramaniam, S.
|
McGown, I.
| +5
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3
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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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
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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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
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
Wird geladen...
9
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
Wird geladen...
10
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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16
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Zeitschriftentitel
4
Journal of inherited metabolic disease
3
Pediatric and developmental pathology
2
The Medical journal of Australia
1
Brain & development
1
Brain and development
1
Clinical endocrinology
1
Clinical endocrinology <Oxford>
1
Pediatric and developmental pathology : the off...
1
The Clinical biochemist. Reviews
1
The medical journal of Australia
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Thema
6
Journal Article
4
Case Reports
3
21-hydroxylase deficiency
3
AICAR
3
High Performance Liquid Chromatography
3
Myoclonic Jerk
3
Plasma Amino Acid
3
Research Support, Non-U.S. Gov't
3
Severe Psychomotor Retardation
3
congenital adrenal hyperplasia
3
neonatal screening
3
sudden infant death syndrome
2
EC 1.14.14.16
2
Steroid 21-Hydroxylase
1
19240-42-7
1
360-97-4
1
3XMK78S47O
1
415SHH325A
1
4542-23-8
1
7LP2MPO46S
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Erscheinungszeitraum
10
2010-2019
6
2000-2009
Erscheinungsjahr(e)
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Sprache
13
Englisch
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