Search Results - "McGown, Ivan N"

Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl by Chen, Bee C, Balasubramaniam, Shanti, McGown, Ivan N, O’Neill, J. Patrick, Chng, Gaik S, Keng, Wee T, Ngu, Lock H, Duley, John A

“…Abstract Background : Lesch–Nyhan disease (LND) is a rare X-linked recessive neurogenetic disorder caused by deficiency of the purine salvage enzyme…”
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A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development by Wu, Joyce Y., McGown, Ivan N., Lin, Lin, Achermann, John C., Harris, Mark, Cowley, David M., Aftimos, Salim, Neville, Kristen A., Choong, Catherine S., Cotterill, Andrew M.

“…Summary Background NR5A1 loss‐of‐function mutations are increasingly found to be the cause of 46,XY disorders of sex development (DSD). Objective To determine…”
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Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia? by Wu, Joyce Y, Sudeep, Cowley, David M, Harris, Mark, McGown, Ivan N, Cotterill, Andrew M

“…Summary 21‐Hydroxylase deficiency (21‐OHD) is the most common cause of congenital adrenal hyperplasia, with an incidence of 1 : 14 000 live births and equal…”
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Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations by Chen, Bee Chin, McGown, Ivan N., Thong, Meow Keong, Pitt, James, Yunus, Zabedah M., Khoo, Teck Beng, Ngu, Lock Hock, Duley, John A.

“…Most cases of adenylosuccinate lyase (ADSL OMIM 103050) deficiency reported to date are confined to the various European ethnic groups. We report on the first…”
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Paediatric diabetes — which children can gain insulin independence? by Harris, Mark F, McGown, Ivan N, Cowley, David M

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Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS by Gozzi, Tiziana G, Harris, Naomi P, McGown, Ivan N, Cowley, David M, Cotterill, Andrew M, Campbell, Peter E, Anderson, P Kym, Warne, Garry L

“…A 5-month-old boy with no history of vomiting, early sexual development, or noticeable significant illness was found dead in bed. Autopsy demonstrated…”
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A novel NR 5 A 1 variant in an infant with elevated testosterone from an A ustralasian cohort of 46, XY patients with disorders of sex development by Wu, Joyce Y., McGown, Ivan N., Lin, Lin, Achermann, John C., Harris, Mark, Cowley, David M., Aftimos, Salim, Neville, Kristen A., Choong, Catherine S., Cotterill, Andrew M.

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Investigating maturity onset diabetes of the young by Nyunt, Ohn, Wu, Joyce Y, McGown, Ivan N, Harris, Mark, Huynh, Tony, Leong, Gary M, Cowley, David M, Cotterill, Andrew M

“…Maturity Onset Diabetes of Young (MODY) is a monogenic and autosomal dominant form of diabetes mellitus with onset of the disease often before 25 years of age…”
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