Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., Chapman, Kimberly A.
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Published in Journal of Inherited Metabolic Disease (01.01.2017)
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Incidence of Congenital Hypothyroidism Over 37 Years in Ireland
McGrath, Niamh, Hawkes, Colin P, McDonnell, Ciara M, Cody, Declan, O'Connell, Susan M, Mayne, Philip D, Murphy, Nuala P
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Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency
Fitzsimons, Patricia E., Alston, Charlotte L., Bonnen, Penelope E., Hughes, Joanne, Crushell, Ellen, Geraghty, Michael T., Tetreault, Martine, O'Reilly, Peter, Twomey, Eilish, Sheikh, Yusra, Walsh, Richard, Waterham, Hans R., Ferdinandusse, Sacha, Wanders, Ronald J. A., Taylor, Robert W., Pitt, James J., Mayne, Philip D.
Published in American journal of medical genetics. Part A (01.05.2018)
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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28
Reardon, William, Donoghue, Veronica, Murphy, Anne-Marie, King, Mary D., Mayne, Philip D., Horn, Nina, Birk Møller, Lisbeth
Published in European journal of pediatrics (01.08.2010)
Published in European journal of pediatrics (01.08.2010)
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Can neonatal TSH screening reflect trends in population iodine intake?
Burns, Robert, Mayne, Philip D, O'Herlihy, Colm, Smith, Derek F, Higgins, Mary, Staines, Anthony, Smyth, Peter P A
Published in Thyroid (New York, N.Y.) (01.08.2008)
Published in Thyroid (New York, N.Y.) (01.08.2008)
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Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake
Knerr, Ina, Crushell, Ellen, Monavari, Ahmad, Mayne, Philip, Deverell, Deirdre, Clark, Anne, McNulty, Jenny, Grant, Tim, Coughlan, Aoife, Purcell, Orla, Hughes, Joanne
Published in Journal of nutrition and metabolism (01.01.2017)
Published in Journal of nutrition and metabolism (01.01.2017)
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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
Krijt, Jakub, Kopecká, Jana, Hnízda, Aleš, Moat, Stuart, Kluijtmans, Leo A. J, Mayne, Philip, Kožich, Viktor
Published in Journal of inherited metabolic disease (01.02.2011)
Published in Journal of inherited metabolic disease (01.02.2011)
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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28
REARDON, William, DONOGHUE, Veronica, MURPHY, Anne-Marie, KING, Mary D, MAYNE, Philip D, HORN, Nina, BIRK MOLLER, Lisbeth
Published in European journal of pediatrics (01.08.2010)
Published in European journal of pediatrics (01.08.2010)
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Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study
Kirke, Peadar N, Mills, James L, Molloy, Anne M, Brody, Lawrence C, O'Leary, Valerie B, Daly, Leslie, Murray, Sharon, Conley, Mary, Mayne, Philip D, Smith, Owen, Scott, John M
Published in BMJ (26.06.2004)
Published in BMJ (26.06.2004)
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Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation
McGrath, Niamh, Hawkes, Colin Patrick, Mayne, Philip, Murphy, Nuala Patricia
Published in The Journal of pediatrics (01.02.2019)
Published in The Journal of pediatrics (01.02.2019)
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Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
Tighe, Orna, Dunican, Donncha, O'Neill, Charles, Bertorelle, Giorgio, Beattie, Diane, Graham, Colin, Zschocke, Johannes, Cali, Francesco, Romano, Valentino, Hrabincova, Eva, Kozak, Libor, Nechyporenko, Marina, Livshits, Ludmilla, Guldberg, Per, Jurkowska, Monika, Zekanowski, Cezary, Perez, Belen, Desviat, Lourdes Ruiz, Ugarte, Magdalena, Kučinskas, Vaidutis, Knappskog, Per, Treacy, Eileen, Naughten, Eileen, Tyfield, Linda, Byck, Susan, Scriver, Charles R., Mayne, Philip D., Croke, David T.
Published in Human mutation (01.04.2003)
Published in Human mutation (01.04.2003)
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The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited
O'Donnell, Kate A, O'Neill, Charles, Tighe, Orna, Bertorelle, Giorgio, Naughten, Eileen, Mayne, Philip D, Croke, David T
Published in European journal of human genetics : EJHG (01.09.2002)
Published in European journal of human genetics : EJHG (01.09.2002)
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Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism
McGrath, Niamh, Hawkes, Colin Patrick, Ryan, Stephanie, Mayne, Philip, Murphy, Nuala
Published in Hormone research in paediatrics (2021)
Published in Hormone research in paediatrics (2021)
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Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population
Tighe, Orna, Flanagan, Jonathon M, Kernan, Fiona, O'Neill, Charles, Naughten, Eileen, Mayne, Philip D, Croke, David T
Published in Molecular genetics and metabolism (01.08.2004)
Published in Molecular genetics and metabolism (01.08.2004)
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GP226 Tetrahydrobiopterin disorders in ireland: a case series of 7 patients
Fisher, Arie, Boruah, Ritma, Mayne, Philip D, Monavari, Ahmad A, Crushell, Ellen, Knerr, Ina
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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