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Author A A Monavari

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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

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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

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Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.

O Kuseyri, A Weissbach, N Bruggemann, C Klein, M Giżewska, D Karall, S Scholl-Bürgi, H Romanowska, E Krzywińska-Zdeb, A A Monavari, I Knerr, Z Yapıcı, V Leuzzi, T Opladen,

INTRODUCTION:Inborn errors of tetrahydrobiopterin (BH4) biosynthesis or recycling are a group of very rare neurometabolic diseases. Following growing awareness and improved availability of drug treatment the number of patients with BH4 disorders reaching adulthood is constantly increasing. Pregnancy care of patients with these disorders is therefore a new challenge for ... Read more >>

J Inherit Metab Dis (Journal of inherited metabolic disease)
[2018, 41(5):849-863]

Cited: 1 time

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A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders.

A Smith, E Dunne, M Mannion, C O'Connor, I Knerr, A A Monavari, J Hughes, N Eustace, E Crushell,

Mitochondrial disorders are a clinically and biochemically diverse group of disorders which may involve multiple organ systems. General anaesthesia (GA) poses a potential risk of decompensation in children with mitochondrial disorders, and there is little guidance for anaesthetists and other clinicians regarding the optimal anaesthetic agents and perioperative management to ... Read more >>

Eur J Pediatr (European journal of pediatrics)
[2017, 176(1):83-88]

Cited: 4 times

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Type 1 Tyrosinaemia.

M A Mannion, A Smith, P Mayne, A A Monavari,

Tyrosinaemia type 1 (TYR1, OMIM# 276700) is a rare autosomal recessive disease that results from an enzyme defect that leads to a deficiency in fumarylacetoacetase (FAH)1. We present 3 cases of TYR1 in the Irish population over a 9 year period, the only cases known to have been diagnosed in ... Read more >>

Ir Med J (Irish medical journal)
[2016, 109(6):426]

Cited: 0 times

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Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

Jillian P Casey, Suzanne Slattery, Melanie Cotter, A A Monavari, Ina Knerr, Joanne Hughes, Eileen P Treacy, Deirdre Devaney, Michael McDermott, Eoghan Laffan, Derek Wong, Sally Ann Lynch, Billy Bourke, Ellen Crushell,

BACKGROUND:Recessive LARS mutations were recently reported to cause a novel syndrome, infantile liver failure syndrome type 1 (ILFS1), in six Irish Travellers. We have since identified four additional patients, including one of Ashkenazi origin, representing the largest ILFS1 cohort to date. Our study aims to define the ILFS1 clinical phenotype ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2015, 38(6):1085-1092]

Cited: 9 times

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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

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Should children with inherited metabolic disorders receive varicella vaccination?

M Varghese, M Cafferkey, M O'Regan, A A Monavari, E P Treacy,

The aim was to determine the rate of varicella infection and complications in children with disorders of intermediary metabolism (IEM) between the ages of 1 and 16 years attending our national metabolic referral centre. Of 126 children identified, a response was received from 122. A history of previous varicella infection ... Read more >>

Arch Dis Child (Archives of disease in childhood)
[2011, 96(1):99-100]

Cited: 3 times

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Long chain fatty acid oxidation defects in children: importance of detection and treatment options.

B Hayes, B Lynch, M O'Keefe, A A Monavari, E P Treacy,

Mitochondrial beta oxidation plays a major role in energy production. Long chain fatty acid oxidation defects include deficiency of the trifunctional protein (rare) or more commonly defects of the long chain 3-hydroxy acyl-CoA dehydrogenase enzyme (LCHAD). These long chain defects have variable presentations, they may present in the neonate or ... Read more >>

Ir J Med Sci (Irish journal of medical science)
[2007, 176(3):189-192]

Cited: 4 times

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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

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Glutaric aciduria and suspected child abuse.

A A Morris, G F Hoffmann, E R Naughten, A A Monavari, J E Collins, J V Leonard,

Arch. Dis. Child. (Archives of disease in childhood)
[1999, 80(5):404-405]

Cited: 28 times

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Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management.

A A Monavari, E R Naughten,

AIMS:To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation. SETTING:The National Centre for Inherited Metabolic ... Read more >>

Arch. Dis. Child. (Archives of disease in childhood)
[2000, 82(1):67-70]

Cited: 33 times

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Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.

S Yap, A A Monavari, P Thornton, E Naughten,

J Inherit Metab Dis (Journal of inherited metabolic disease)
[1998, 21(2):175-176]

Cited: 5 times

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