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Full NameProfessor Ina Knerr
National Centre for Inherited Metabolic Disorders
University College Dublin
Webpage:metabolic.ie
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- genetics, genomics and molecular biology
- physiology and non-communicable disease
- Other
Metabolic disorders, paediatric metabolic medicine
- Medicine
- Paediatrics
- Adolescent medicine
There are a number of research projects and international collaborations on-going at the National Centre for Inherited Metabolic Disorders (NCIMD) at Temple Street Children's University Hospital (TSCUH) in Dublin. A number of interesting research topics are covered by these projects, including amino acid-related inborn metabolic disorders and other metabolic diseases in childhood (and beyond). NCIMD TSCUH is truly committed to the highest possible standard of patient care and engagement as well as international collaborative research activities.
Among of my most recent publications are the following publications -
- Knerr I. Amino Acid-Related Diseases. In: Dardevet D. The molecular nutrition of amino acids and proteins. Elsevier, Amsterdam/Boston/Heidelberg, pp. 305-314, 2016.
- Alston CL, Howard C, Ol?hov? M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J Med Genet, 53:634-41, 2016.
- Ventzke A, Hoffmann J, Crushell E, Monavari A, Mayne PD, Knerr I. 'Malignant Phenylketonuria' Due to Dihydropteridine Reductase Deficiency. Ir Med J, 108:312-4, 2015.
- Knerr I, Coss KP, Kratzsch J, Crushell E, Clark A, Doran P, Shin Y, Stockmann H, Rudd PM, Treacy E. Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study. Pediatr Res, 78:272-9, 2015.
- Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E. Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. J Inherit Metab Dis, 38:1085-92, 2015.
- Knerr I, Vockley J, Gibson KM. Disorders of Leucine, Isoleucine and Valine Metabolism. In: Blau N, Duran M, Gibson KM, Dionisi-Vici C. Physician's Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases. Springer, Heidelberg/New York/London, pp. 103-41, 2014.
- Coss KP, Treacy EP, Cotter EJ, Knerr I, Murray DW, Shin YS, Doran PP. Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism? Mol Genet Metab, 113:177-87, 2014.
- Knerr I, Blessing H, Seyferth S, Watling RJ, Chaudhri MA. Evaluation of plasma trace element and mineral status in children and adolescents with phenylketonuria using data from inductively-coupled-plasma atomic emission and mass spectrometric analysis. Ann Nutr Metab, 63:168-73, 2013.