Full Text Journal Articles by
Author P D Mayne

Advertisement

Find full text journal articles






Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population

Z Mesbah, K Sing Ho, P Fitzsimons, A A Monavari, E Crushell, P D Mayne,

Ir Med J (Irish medical journal)
[2020, 112(10):1016]

Cited: 0 times

View full text PDF listing >>



Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.

Z Mesbah, K Sing Ho, P Fitzsimons, A A Monavari, P D Mayne, E Crushell,

Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children's University Hospital. Central Statistics Office population ... Read more >>

Ir Med J (Irish medical journal)
[2019, 112(10):1016]

Cited: 0 times

View full text PDF listing >>



Advertisement

'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency.

A Ventzke, J Hoffmann, E Crushell, A Monavari, P D Mayne, I Knerr,

DHPR deficiency is a rare autosomal recessively inherited metabolic disorder of tetrahydrobiopterin (BH4) regeneration. Clinical symptoms may comprise microcephaly, developmental delay, ataxia and seizures. BH4 is the cofactor for the enzyme phenylalanine (Phe)hydroxylase (PAH), and for tryptophan and tyrosine hydroxylases, both of which are essential for serotonin and dopamine biosynthesis. ... Read more >>

Ir Med J (Irish medical journal)
[2015, 108(10):312-314]

Cited: 2 times

View full text PDF listing >>



Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.

J J O'Byrne, S A Lynch, E P Treacy, M D King, D R Betts, P D Mayne, F Sharif,

Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons ... Read more >>

Ir J Med Sci (Irish journal of medical science)
[2016, 185(1):241-248]

Cited: 6 times

View full text PDF listing >>



Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.

K P Coss, P P Doran, C Owoeye, M B Codd, N Hamid, P D Mayne, E Crushell, I Knerr, A A Monavari, E P Treacy,

Newborn screening for the inborn error of metabolism, classical galactosaemia prevents life-threatening complications in the neonatal period. It does not however influence the development of long-term complications and the complex pathophysiology of this rare disease remains poorly understood. The objective of this study was to report the development of a ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2013, 36(1):21-27]

Cited: 39 times

View full text PDF listing >>



Lack of awareness of risk factors for primary toxoplasmosis in pregnancy.

W Ferguson, P D Mayne, M Cafferkey, K Butler,

The overall seroprevalence of toxoplasma antibodies in women of childbearing age in Ireland is 25% [1]. Hence, 75% of women remain susceptible to primary toxoplasma infection during pregnancy, which if transmitted to the foetus can cause ocular, neurological and other sequelae. Toxoplasma exposure during pregnancy can be avoided if there ... Read more >>

Ir J Med Sci (Irish journal of medical science)
[2011, 180(4):807-811]

Cited: 8 times

View full text PDF listing >>



The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.

J M Flanagan, G McMahon, S H Brendan Chia, P Fitzpatrick, O Tighe, C O'Neill, P Briones, L Gort, L Kozak, A Magee, E Naughten, B Radomyska, M Schwartz, J S Shin, W M Strobl, L A Tyfield, H R Waterham, H Russell, G Bertorelle, J K V Reichardt, P D Mayne, D T Croke,

Classical or transferase-deficient galactosaemia is an inherited metabolic disorder caused by mutation in the human Galactose-1-phosphate uridyl transferase (GALT) gene. Of some 170 causative mutations reported, fewer than 10% are observed in more than one geographic region or ethnic group. To better understand the population history of the common GALT ... Read more >>

Heredity (Edinb) (Heredity)
[2010, 104(2):148-154]

Cited: 9 times

View full text PDF listing >>



N-terminal pro-B-type natriuretic peptide: a measure of significant patent ductus arteriosus.

I Farombi-Oghuvbu, T Matthews, P D Mayne, H Guerin, J D Corcoran,

BACKGROUND: B-type natriuretic peptide (BNP) is a marker for ventricular dysfunction secreted as a pre-prohormone, pro-B-type natriuretic peptide (proBNP), and cleaved into BNP and a biologically inactive fragment, N-terminal pro-B-type natriuretic peptide (NT-proBNP). Little is known about the clinical usefulness of NT-proBNP in preterm infants. OBJECTIVE: To evaluate the usefulness ... Read more >>

Arch. Dis. Child. Fetal Neonatal Ed. (Archives of disease in childhood. Fetal and neonatal edition)
[2008, 93(4):F257-60]

Cited: 41 times

View full text PDF listing >>



Thyroid dysfunction in Down's syndrome and screening for hypothyroidism in children and adolescents using capillary TSH measurement.

J Murphy, M Philip, S Macken, J Meehan, E Roche, P D Mayne, M O'Regan, H M C V Hoey,

UNLABELLED:Thyroid dysfunction is more common in individuals with Down's syndrome (DS) than in the general population, whose clinical features can mask the presenting signs and symptoms of hypothyroidism. Biochemical screening is necessary; however, venepuncture may be difficult. AIMS:To assess the prevalence of thyroid dysfunction in children and adolescents with DS ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2008, 21(2):155-163]

Cited: 3 times

View full text PDF listing >>



Glutaric aciduria type I: outcome in the Republic of Ireland.

E R Naughten, P D Mayne, A A Monavari, S I Goodman, G Sulaiman, D T Croke,

Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2004, 27(6):917-920]

Cited: 40 times

View full text PDF listing >>



Amino acids: analytical aspects.

P D Mayne, G Roche, D Deverell,

This workshop was organized as a direct response to concerns and queries raised by laboratory personnel, both in Europe and in the United States, about the imminent withdrawal of Beckman Coulter from the amino acid analysis market. The topics covered included external quality control schemes, standard operating procedures for amino ... Read more >>

J Inherit Metab Dis (Journal of inherited metabolic disease)
[2001, 24(2):305-308]

Cited: 1 time

View full text PDF listing >>



What is the origin of 3-methylglutaconic acid?

R Walsh, H Conway, G Roche, P D Mayne,

J Inherit Metab Dis (Journal of inherited metabolic disease)
[1999, 22(3):251-255]

Cited: 4 times

View full text PDF listing >>



Newborn screening for homocystinuria: Irish and world experience.

E R Naughten, S Yap, P D Mayne,

Newborn screening for cystathionine beta-synthase deficiency (homocystinuria; HCU) was started in the late 1960s using a bacterial inhibition assay (BIA). At least seven countries have either national or regional screening programmes; 12 programmes are known to have discontinued. The worldwide incidence of HCU is approximately 1 in 335,000 but varies ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[1998, 157 Suppl 2:S84-7]

Cited: 49 times

View full text PDF listing >>



3-Methylglutaconic aciduria in pregnancy.

R Walsh, H Conway, G Roche, E Naughten, P D Mayne,

Lancet (Lancet (London, England))
[1997, 349(9054):776]

Cited: 6 times

View full text PDF listing >>



Frequency distribution of the Q188R mutation in the Irish galactosaemic population.

M Murphy, D Sexton, C O'Neill, D T Croke, P D Mayne, E R Naughten,

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[1996, 19(2):217-219]

Cited: 5 times

View full text PDF listing >>



Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia.

M D Feher, J C Webb, D D Patel, A F Lant, P D Mayne, B L Knight, A K Soutar,

Familial hypercholesterolaemia (FH) is caused by mutations in the gene for the low density lipoprotein (LDL) receptor. It is generally believed that homozygous FH patients do not respond well to lipid-lowering drug therapy with inhibitors of 3-hydroxy-3-methylglutaryl CoA reductase because they cannot respond to an increased demand for hepatic cholesterol ... Read more >>

Atherosclerosis (Atherosclerosis)
[1993, 103(2):171-180]

Cited: 15 times

View full text PDF listing >>



The effect of bezafibrate treatment on serum alkaline phosphatase isoenzyme activities.

A P Day, M D Feher, R Chopra, P D Mayne,

A reduction in serum total alkaline phosphatase (ALP) activity is a well-documented side effect of treatment with bezafibrate and other fibric acid derivatives. To evaluate the effect of bezafibrate treatment on individual ALP isoenzyme activities, 10 patients were studied on two separate occasions, first, after a 6-week period on no ... Read more >>

Metab. Clin. Exp. (Metabolism: clinical and experimental)
[1993, 42(7):839-842]

Cited: 32 times

View full text PDF listing >>



Triglyceride fatty acid chain length influences the post prandial rise in serum intestinal alkaline phosphatase activity.

A P Day, M D Feher, R Chopra, P D Mayne,

Intestinal alkaline phosphatase (IALP) activity rises following the ingestion of a fat-containing meal. Previous studies on intestinal fluid and lymph have shown that the magnitude of this response is dependent upon fatty acid chain length. To examine this relation in the serum of healthy humans, 10 subjects consumed two standardized ... Read more >>

Ann Clin Biochem (Annals of clinical biochemistry)
[1992, 29 ( Pt 3):287-291]

Cited: 8 times

View full text PDF listing >>



Importance of routine measurement of HDL with total cholesterol in diabetic patients.

M D Feher, J Stevens, A F Lant, P D Mayne,

The prevalence of hypercholesterolaemia and the frequency of a reduced HDL-cholesterol (at different cholesterol concentrations) were evaluated in a group of 400 diabetic patients attending a single diabetic clinic. Despite regularly supervised diabetes, including dietary advice, over one quarter of the patients had a serum total cholesterol concentration greater than ... Read more >>

J R Soc Med (Journal of the Royal Society of Medicine)
[1992, 85(1):8-11]

Cited: 1 time

View full text PDF listing >>



Evaluation of two new methods for routine measurement of alkaline phosphatase isoenzymes.

A P Day, S Saward, C M Royle, P D Mayne,

AIMS:To evaluate the performance of two new methods for the analysis of alkaline phosphatase (ALP) isoenzymes designed for use in the routine chemical pathology laboratory: pre-incubation with neuraminidase before agarose electrophoresis; and selective precipitation of the bone isoenzyme with wheat germ agglutinin (WGA). METHODS:Serum samples from 39 patients were analysed. ... Read more >>

J Clin Pathol (Journal of clinical pathology)
[1992, 45(1):68-71]

Cited: 8 times

View full text PDF listing >>



Calcium and phosphorus metabolism in the premature infant.

P D Mayne, I Z Kovar,

During the last trimester of pregnancy, there is a sixfold increase in fetal calcium and phosphorus accumulation. Unsupplemented human breast milk may not provide sufficient calcium and phosphorus for the rapidly growing preterm infant to match the accumulation that should have taken place in utero and to permit normal bone ... Read more >>

Ann. Clin. Biochem. (Annals of clinical biochemistry)
[1991, 28 ( Pt 2):131-142]

Cited: 14 times

View full text PDF listing >>



What on earth are we drinking?

P D Mayne, L Edwards,

During the past few years there has been a considerable increase in the number and variety of still and carbonated bottled drinking waters, which have an enormous variation in calcium content ranging from 0 to over 500 mg/l. Patients with upper urinary tract stones are often advised to maintain a ... Read more >>

Br J Urol (British journal of urology)
[1990, 66(2):123-126]

Cited: 6 times

View full text PDF listing >>



Calcium and phosphorus solubility in neonatal intravenous feeding solutions.

P MacMahon, P D Mayne, M Blair, C Pope, I Z Kovar,

The limited solubility of calcium and phosphorus in standard parenteral nutrition formulations has restricted the ability to provide sufficient minerals to preterm infants to prevent substrate deficient metabolic bone disease. We determined the solubility limits of calcium and phosphorus in a total of 160 formulations under carefully controlled conditions. By ... Read more >>

Arch Dis Child (Archives of disease in childhood)
[1990, 65(4 Spec No):352-353]

Cited: 7 times

View full text PDF listing >>



Acid-base state of the preterm infant and the formulation of intravenous feeding solutions.

P MacMahon, P D Mayne, M Blair, C Pope, I Z Kovar,

An acidic intravenous source of phosphorus (Addiphos) was compared with dipotassium hydrogen phosphate in 25 preterm infants to study acid-base state. Eight infants were given either Addiphos or dipotassium hydrogen phosphate alternately for 48 hour periods and similar amounts of calcium and phosphorus were delivered. There were no significant differences ... Read more >>

Arch Dis Child (Archives of disease in childhood)
[1990, 65(4 Spec No):354-356]

Cited: 1 time

View full text PDF listing >>



Comparison of an immunochemical assay for plasma fibrinogen and a turbidimetric thrombin clotting technique to discriminate hyperlipidaemic patients from healthy controls.

M L Knapp, M D Feher, H Carey, P D Mayne,

Plasma samples from patients attending a lipid clinic (n = 14) and healthy control subjects (n = 21) were assayed for fibrinogen using an immunochemical method (radial immunodiffusion) and a turbidimetric assay based on the thrombin clotting technique. The patients had significantly higher plasma fibrinogen concentrations than controls by both ... Read more >>

J Clin Pathol (Journal of clinical pathology)
[1990, 43(6):508-510]

Cited: 2 times

View full text PDF listing >>



Advertisement

Disclaimer
1.069 s