Ingrid Borovickova
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View article: Total plasma homocysteine measurement: Evaluation of the Abbott immunoassay, comparison with the JEOL ion exchange chromatography and investigation of its clinical utility
Total plasma homocysteine measurement: Evaluation of the Abbott immunoassay, comparison with the JEOL ion exchange chromatography and investigation of its clinical utility Open
View article: Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial <scp>3‐hydroxy‐3‐methylglutaryl‐CoA</scp> synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial <span>3‐hydroxy‐3‐methylglutaryl‐CoA</span> synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis Open
Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA (HMG Co‐A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has traditionally been associated with hypoketotic hypoglycemia, hepatomegaly and encephalo…
View article: National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years
National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years Open
View article: The role of the Clinical Chemistry laboratory in facilitating earlier diagnosis of dyslipidaemia-associated inherited metabolic disease
The role of the Clinical Chemistry laboratory in facilitating earlier diagnosis of dyslipidaemia-associated inherited metabolic disease Open
Sulaiman presents a best practice review for primary/monogenic dyslipidaemia, their clinical presentation and best use of molecular genetics for earlier diagnosis.1 This review is important in the context of such patients, with multisystem…
View article: GP60 Clinical utility of elevated vitamin B12 levels with a progressively abnormal blood film
GP60 Clinical utility of elevated vitamin B12 levels with a progressively abnormal blood film Open
Introduction Cobalamin plays an essential role in haematopoiesis, cell metabolism, production of DNA and neuronal function. High serum concentration of cobalamin is a common but underestimated finding. The aetiology of hypercobalaminaemia …
View article: P123 Maternal pernicious anaemia associated with anorexia and ketotic hypoglycaemia in a child with methylmalonic acid and orotic acid excretion in the urine – a case report
P123 Maternal pernicious anaemia associated with anorexia and ketotic hypoglycaemia in a child with methylmalonic acid and orotic acid excretion in the urine – a case report Open
Case report A 13 month-old baby girl presented with vomiting and refusal to feed; she was mostly breast feeding. On examination, she appeared off form, underweight, hypotonic and pale. Bedside testing revealed a low blood glucose level of …
View article: P426 Profound metabolic acidosis and hypertriglyceridaemia in mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase- 2 deficiency (HMGCS2D)
P426 Profound metabolic acidosis and hypertriglyceridaemia in mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase- 2 deficiency (HMGCS2D) Open
Introduction Mitochondrial HMG-CoA synthase deficiency (HMGCS2D) is an autosomal recessive disorder of ketone body synthesis characterised by hypoketotic hypoglycaemia, vomiting and hepatomegaly typically in the first year of life. Methods…
View article: Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1
Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 Open
View article: 39. Acute Monoarthritis: look beyond just an acute attack
39. Acute Monoarthritis: look beyond just an acute attack Open
View article: Hypogonadism with Normal Serum Testosterone
Hypogonadism with Normal Serum Testosterone Open
A 69-year-old man was referred to the endocrine clinic with a 3-year history of erectile dysfunction, reduced libido, and lack of nocturnal tumescence with no response to phosphodiesterase type 5 inhibitors (sildenafil and tadalafil). The …