Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ritma Boruah"'
Autor:
Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 150-155 (2023)
Abstract Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants in MTFMT have been described in association with clinical presentations with Leigh syndrome, as well
Externí odkaz:
https://doaj.org/article/281228b2f22844a78b0df3c0979edf2a
Autor:
Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah
Publikováno v:
JIMD Reports. 64:150-155
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68ded50e323982f35054f387f51b87ca
https://doi.org/10.1002/jmd2.12355
https://doi.org/10.1002/jmd2.12355
Autor:
Ritma Boruah, Ahmad Ardeshir Monavari, Tracey Conlon, Nuala Murphy, Andreea Stroiescu, Stephanie Ryan, Joanne Hughes, Ina Knerr, Ciara McDonnell, Ellen Crushell
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 5; Pages: 1366
Mucolipidosis type II (ML II) is an autosomal recessive lysosomal targeting disorder that may present with features of hyperparathyroidism. The aim of this study was to describe in detail the clinical cases of ML II presenting to a tertiary referral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00ae64c504c7a4f3ef235fff10cadf34
https://doi.org/10.3390/jcm11051366
https://doi.org/10.3390/jcm11051366
Autor:
Jörn Oliver Sass, Mohamed A. Elmonem, Mounika Endrakanti, Jolanta Sykut-Cegielska, Amaya Belanger-Quintana, Elisenda Cortès-Saladelafont, Elena Levtchenko, Sarah C. Grünert, Johannes Krämer, Alice Kuster, Ina Knerr, Neerja Gupta, Lock-Hock Ngu, Pilar Giraldo, M. Mar Rovira-Remisa, Lambertus P. van den Heuvel, Madhulika Kabra, Albina Tummolo, A. Bordugo, Ritma Boruah
Publikováno v:
Molecular Genetics and Metabolism, 131, 285-288
Molecular Genetics and Metabolism, 131, 3, pp. 285-288
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 131, 3, pp. 285-288
Molecular Genetics and Metabolism
Contains fulltext : 229521.pdf (Publisher’s version ) (Closed access) Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant dat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::752fd78a94829b324be5d17f1be15529
https://doi.org/10.1016/j.ymgme.2020.09.004
https://doi.org/10.1016/j.ymgme.2020.09.004
Publikováno v:
Abstracts.
Background Classical Phenylketonuria (PKU) is an autosomal recessively inherited disorder in phenylalanine metabolism caused by profound deficiency of the enzyme phenylalanine hydroxylase (PAH). Newborn screening for PKU was introduced in Ireland in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::476940a7d2aaca9f521bfa98c9f6b1fe
https://doi.org/10.1136/archdischild-2019-epa.285
https://doi.org/10.1136/archdischild-2019-epa.285
Autor:
Orla Franklin, Siobhan Siobhan, Ahmad Monavari, Joanne Hughes, Ellen Crushell, Ina Knerr, Sally Ann Lynch, Bryan Lynch, Ritma Boruah, Declan O’ Rourke
Publikováno v:
Abstracts.
Despite early diagnosis through Newborn Bloodspot Screening and strict dietary treatment, there are long-term complications of Classical Galactosaemia, including female infertility, osteopenia, and, in some cases, learning disabilities or neurologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd62f3a5e9775e6e635f7ca7e7dbc5d9
https://doi.org/10.1136/archdischild-2019-epa.286
https://doi.org/10.1136/archdischild-2019-epa.286