Monavari AA - Search Results

1

Medium Chain Acyl-CoA Dehydrogenase Deficiency: 3 years of Newborn Screening.

Howard C, Gorman I, Crushell E, Knerr I, Hughes J, Boruah R, O'Grady L, Elsammak MY, Brady JJ, Monavari AA. Howard C, et al. Among authors: monavari aa. Ir Med J. 2023 Mar 23;116(3):743. Ir Med J. 2023. PMID: 37010499 No abstract available.

2

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

Mesbah Z, Sing Ho K, Fitzsimons P, Monavari AA, Mayne PD, Crushell E. Mesbah Z, et al. Among authors: monavari aa. Ir Med J. 2019 Dec 16;112(10):1016. Ir Med J. 2019. PMID: 32311243

3

[No title available]

[No authors listed] [No authors listed] PMID: 32212602

4

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

Ventzke A, Hoffmann J, Crushell E, Monavari A, Mayne PD, Knerr I. Ventzke A, et al. Ir Med J. 2015 Nov-Dec;108(10):312-4. Ir Med J. 2015. PMID: 26817292

5

Rotavirus Gastroenteritis is Associated with Increased Morbidity and Mortality in Children with Inherited Metabolic Disorders.

Smith A, Mannion M, O'Reilly P, Crushell E, Hughes J, Knerr I, Gavin P, Monavari A. Smith A, et al. Ir Med J. 2017 Apr 10;110(4):546. Ir Med J. 2017. PMID: 28665085

6

Parental experience of enzyme replacement therapy for Hunter syndrome.

Buraczewska M, O'Leary D, Walsh O, Monavari A, Crushell E. Buraczewska M, et al. Ir Med J. 2013 Apr;106(4):120-2. Ir Med J. 2013. PMID: 23691848

7

Hyperammonaemia in Neonates and Young Children: Potential Metabolic Causes, Diagnostic Approaches and Clinical Consequences.

Giva S, Finnegan J, Ihidero P, Maguire G, Power B, Knerr I, Monavari A. Giva S, et al. Ir Med J. 2019 Jan 15;112(1):858. Ir Med J. 2019. PMID: 30719899

8

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.

Forman EB, Lynch SA, Knerr I, Monavari A, Hughes J, Boruah R, Green A, Crushell E. Forman EB, et al. Eur J Pediatr. 2023 Jan;182(1):31-40. doi: 10.1007/s00431-022-04697-0. Epub 2022 Nov 14. Eur J Pediatr. 2023. PMID: 36374302 Review.

9

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

O'Reilly D, Crushell E, Hughes J, Ryan S, Rogers Y, Borovickova I, Mayne P, Riordan M, Awan A, Carson K, Hunter K, Lynch B, Shahwan A, Rüfenacht V, Häberle J, Treacy EP, Monavari AA, Knerr I. O'Reilly D, et al. Among authors: monavari aa. J Inherit Metab Dis. 2021 May;44(3):639-655. doi: 10.1002/jimd.12337. Epub 2020 Dec 20. J Inherit Metab Dis. 2021. PMID: 33300147

10

Catalogue of inherited disorders found among the Irish Traveller population.

Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J. Lynch SA, et al. Among authors: monavari aa. J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358271

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