Search Results - "Monavari, Ahmad A"

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 by O'Reilly, Daniel, Crushell, Ellen, Hughes, Joanne, Ryan, Stephanie, Rogers, Yvonne, Borovickova, Ingrid, Mayne, Philip, Riordan, Michael, Awan, Atif, Carson, Kevin, Hunter, Kim, Lynch, Bryan, Shahwan, Amre, Rüfenacht, Véronique, Häberle, Johannes, Treacy, Eileen P., Monavari, Ahmad A., Knerr, Ina

“…Since 1972, 18 patients (10 females/8 males) have been detected by newborn bloodspot screening (NBS) with neonatal‐onset maple syrup urine disease (MSUD) in…”
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Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion by O'Grady, Michael J, Monavari, Ahmad A, Cotter, Melanie, Murphy, Nuala P

“…A fatigued 8-year-old boy was found to have sideroblastic anaemia (haemoglobin 7.8 g/dL) which over time became transfusion dependent. Subtle neurological…”
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GP226 Tetrahydrobiopterin disorders in ireland: a case series of 7 patients by Fisher, Arie, Boruah, Ritma, Mayne, Philip D, Monavari, Ahmad A, Crushell, Ellen, Knerr, Ina

“…BackgroundClassical Phenylketonuria (PKU) is an autosomal recessively inherited disorder in phenylalanine metabolism caused by profound deficiency of the…”
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GP227 Clinical spectrum of classical galactosaemia associated with friedreich’s ataxia in a paediatric cohort in the republic of ireland – an update by Boruah, Ritma, Siobhan, Siobhan, Franklin, Orla, Rourke, Declan O’, Lynch, Bryan, Lynch, Sally Ann, Hughes, Joanne, Monavari, Ahmad A, Crushell, Ellen, Knerr, Ina

“…Despite early diagnosis through Newborn Bloodspot Screening and strict dietary treatment, there are long-term complications of Classical Galactosaemia,…”
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