Search Results - "Monavari, Ahmad"

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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Outcomes of Siblings with Classical Galactosemia by Hughes, Joanne, MB, Ryan, Stephanie, MB, Lambert, Deborah, MSc, Geoghegan, Olivia, BSc, Clark, Anne, BSc, Rogers, Yvonne, MSc, Hendroff, Una, BA mod, Monavari, Ahmad, MB, Twomey, Eilish, MB, Treacy, Eileen P., MD

“…Objectives To determine the long-term outcome of dietary intervention in siblings from 14 Irish families with classical galactosemia (McKusick 230400), an…”
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Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland by Allen, John, Power, Bronwyn, Abedin, Aida, Purcell, Orla, Knerr, Ina, Monavari, Ahmad

“…Background Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine β‐synthase deficiency. Its biochemical hallmarks are…”
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Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results by Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad, Daly, Eimear, Coughlan, Aoife, Branagan, Peter, Newcombe, Nicola, Macauley, Margaret, Corcoran, Emma, Deverell, Deirdre, Clark, Anne, Moore Heslin, Aoibhin

“…The Metabolic Dietetic Team in the National Centre for Inherited Metabolic Disorders (NCIMD) in Ireland deals with approximately 120 weekly phenylalanine (Phe)…”
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Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience by Boruah, Ritma, Monavari, Ahmad Ardeshir, Conlon, Tracey, Murphy, Nuala, Stroiescu, Andreea, Ryan, Stephanie, Hughes, Joanne, Knerr, Ina, McDonnell, Ciara, Crushell, Ellen

“…Mucolipidosis type II (ML II) is an autosomal recessive lysosomal targeting disorder that may present with features of hyperparathyroidism. The aim of this…”
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Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake by Knerr, Ina, Crushell, Ellen, Monavari, Ahmad, Mayne, Philip, Deverell, Deirdre, Clark, Anne, McNulty, Jenny, Grant, Tim, Coughlan, Aoife, Purcell, Orla, Hughes, Joanne

“…A low methionine diet is the mainstay of treatment for pyridoxine nonresponsive homocystinuria (HCU). There are various guidelines for recommended protein…”
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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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Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients by Healy, Lydia, O'Shea, Meabh, McNulty, Jennifer, King, Graham, Twomey, Eilish, Treacy, Eileen, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad Ardeshir

“…Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to…”
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The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience by Hart, Caroline, McNulty, Jenny, Cotter, Melanie, Al Jasmi, Fatima, Crushell, Ellen, Monavari, Ahmad Ardeshir

“…Many patients with inborn errors of metabolism, due to early diagnosis and improved management, are living longer with less disease burden. Several are now…”
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Adherence to international and local guidelines in Irish Morquio syndrome type A patients by Howard, Caoimhe, Losty, Eithne, Crushell, Ellen, Monavari, Ahmad, Hughes, Joanne

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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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GP225 Better outcomes of ‘high-risk’ screened glutaric aciduria type 1 patients give optimism to future cases diagnosed through newborn screening in ireland by Healy, Lydia, King, Graham, Lawlor, Margeurite, Hughes, Joanne, Knerr, Ina, Treacy, Eileen, Crushell, Ellen, Monavari, Ahmad

“…IntroductionGlutaric aciduria Type 1 (GA1), first described in 1975, has an incidence of approximately 1:56,000 in Ireland. GA1 usually presents clinically…”
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P424 A rare case of hypermethioninaemic encephalopathy in an infant with classical homocystinuria by Allen, John, Power, Bronwyn, Abedin, Aida, Purcell, Orla, Knerr, Ina, Monavari, Ahmad

“…IntroductionClassical Homocystinuria is an autosomal recessive disorder caused by profound cystathionine β-synthase (CBS) deficiency. CBS deficiency is a…”
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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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Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders by Meyburg, Jochen, Opladen, Thomas, Spiekerkötter, Ute, Schlune, Andrea, Schenk, Jens-Peter, Schmidt, Jan, Weitz, Jürgen, Okun, Jürgen, Bürger, Friederike, Omran, Tawfeg Ben, Abdoh, Ghassan, Al Rifai, Hilal, Monavari, Ahmad, Konstantopoulou, Vassiliki, Kölker, Stefan, Yudkoff, Marc, Hoffmann, Georg F.

“…Background Urea cycle disorders (UCDs) still have a poor prognosis despite several therapeutic advancements. As liver transplantation can provide a cure, liver…”
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Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives by Tumienė, Birutė, Del Toro Riera, Mireia, Grikiniene, Jurgita, Samaitiene-Aleknienė, Rūta, Praninskienė, Rūta, Monavari, Ahmad Ardeshir, Sykut-Cegielska, Jolanta

“…More than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem, life-long and induce complex needs of…”
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RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss—Another Mendelian Mimicker of Congenital Cytomegalovirus Infection by Ulrick, Nicole, Goldstein, Amy, Simons, Cas, Taft, Ryan J., Helman, Guy, Pizzino, Amy, Bloom, Miriam, Vogt, Julie, Pysden, Karen, Diodato, Daria, Martinelli, Diego, Monavari, Ahmad, Buhas, Daniela, van Karnebeek, Clara D.M., Dorboz, Imen, Boespflug-Tanguy, Odile, Rodriguez, Diana, Tétreault, Martine, Majewski, Jacek, Bernard, Genevieve, Ng, Yi Shiau, McFarland, Robert, Vanderver, Adeline

“…Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi–Goutières syndrome or RNASET2 mutations and with…”
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Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies by Casey, Jillian, Jenkinson, Allan, Magee, Alex, Ennis, Sean, Monavari, Ahmad, Green, Andrew, Lynch, Sally A, Crushell, Ellen, Hughes, Joanne

“…We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and…”
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Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language by O’ROURKE, DECLAN J, RYAN, STEPHANIE, SALOMONS, GAJJA, JAKOBS, CORNELIS, MONAVARI, AHMAD, KING, MARY D

“…Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early‐onset learning disability and epilepsy in…”
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RMND1 related Leukoencephalopathy with temporal lobe cysts and hearing loss – another Mendelian mimicker of congenital CMV infection by Ulrick, Nicole, BA, Goldstein, Amy, MD, Simons, Cas, PhD, Taft, Ryan J., PhD, Helman, Guy, BS, Pizzino, Amy, MS CGC, Bloom, M., MD, Vogt, Julie, MBBS, MRCP, Pysden, Karen, MD, Diodato, Daria, MD, Martinelli, Diego, MD, Monavari, Ahmad, MD, Buhas, Daniela, van Karnebeek, Clara D.M., MD, PhD, Dorboz, Imen, PhD, Boespflug-Tanguy, Odile, MD, PhD, Rodriguez, Diana, MD, PhD, Tétreault, Martine, Majewski, Jacek, Bernard, Genevieve, MD, MSc, Ng, Yi Shiau, MRCP, McFarland, Robert, MD, Vanderver, Adeline, MD

“…Abstract Background Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi Goutières Syndrome or RNASET2…”
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