Search Results - "Conlon, Tracey A"
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International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia
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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Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis
Published in JIMD reports (01-09-2020)“…Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA (HMG Co‐A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has…”
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Journal Article -
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The presentation of congenital adrenal hyperplasia in an unscreened population
Published in Journal of pediatric endocrinology & metabolism : JPEM (27-09-2021)“…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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P284 A case of familial cranial diabetes insipidus – it’s all in the history
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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P426 Profound metabolic acidosis and hypertriglyceridaemia in mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase- 2 deficiency (HMGCS2D)
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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Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis
Published in JIMD reports (01-09-2020)“…Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG Co-A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has…”
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