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Archives of Disease in Childhood|January 12, 2000
Prevention of cerebral palsy in glutaric aciduria type 1 by dietary managementA A Monavari, E R Naughten
Metabolic, Pediatric, and Systemic Ophthalmology (New York, N.Y. : 1985)|January 1, 1996
Two cases of hereditary optic atrophy associated with an enzymatic defect of the respiratory chainM Cahill, A Monavari, E Naughten, et al.
Irish Medical Journal|May 23, 2013
Parental experience of enzyme replacement therapy for Hunter syndromeM Buraczewska, D O'Leary, O Walsh, et al.
Irish Medical Journal|November 5, 2016
Type 1 TyrosinaemiaM A Mannion, A Smith, P Mayne, et al.
BMJ Case Reports|February 28, 2015
Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletionMichael J O'Grady, Ahmad A Monavari, Melanie Cotter, et al.
Irish Journal of Medical Science|April 14, 2007
Long chain fatty acid oxidation defects in children: importance of detection and treatment optionsB Hayes, B Lynch, M O'Keefe, et al.
Archives of Disease in Childhood|October 23, 2009
Should children with inherited metabolic disorders receive varicella vaccination?M Varghese, M Cafferkey, M O'Regan, et al.
Irish Medical Journal|January 29, 2016
'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) DeficiencyA Ventzke, J Hoffmann, E Crushell, et al.
Molecular Genetics and Metabolism Reports|January 23, 2025
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of IrelandA Fisher, R Boruah, P D Mayne, et al.
Journal of Inherited Metabolic Disease|July 13, 2004
Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studiesT Rohininath, D J Costello, T Lynch, et al.
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