Search Results - "Conlon, Tracey A"

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    International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia by Conlon, Tracey A, Hawkes, Colin P, Brady, Jennifer J, Loeber, J Gerard, Murphy, Nuala

    Published in Hormone research in paediatrics (2024)
    “…Newborn screening (NBS) programmes vary internationally in their approach to screening. Guidelines for congenital adrenal hyperplasia (CAH) screening recommend…”
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    The presentation of congenital adrenal hyperplasia in an unscreened population by Conlon, Tracey A, Hawkes, Colin P, Brady, Jennifer J, Murphy, Nuala P

    “…The aim of this study was to describe the incidence and spectrum of early clinical presentations of congenital adrenal hyperplasia (CAH) in an unscreened…”
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  4. 4

    P284 A case of familial cranial diabetes insipidus – it’s all in the history by Conlon, Tracey A, Moloney, Sinead, Costigan, Colm, Murphy, Nuala P

    Published in Archives of disease in childhood (01-06-2019)
    “…AimsCranial diabetes insipidus is characterised by polyuria and polydipsia secondary to partial or complete deficiency of antidiuretic hormone. Although in…”
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  5. 5

    P426 Profound metabolic acidosis and hypertriglyceridaemia in mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase- 2 deficiency (HMGCS2D) by Conlon, Tracey A, Fitzsimons, Patricia E, Kaninde, Abhidhamma, Borovickova, Ingrid, Crushell, Ellen

    Published in Archives of disease in childhood (01-06-2019)
    “…IntroductionMitochondrial HMG-CoA synthase deficiency (HMGCS2D) is an autosomal recessive disorder of ketone body synthesis characterised by hypoketotic…”
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    Journal Article
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