Search Results - "Monavari, Ahmad Ardeshir"

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…”
Get full text

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…”
Get full text

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…”
Get full text

Proteomics Reveals that Redox Regulation Is Disrupted in Patients with Ethylmalonic Encephalopathy by Palmfeldt, Johan, Vang, Søren, Stenbroen, Vibeke, Pavlou, Evangelos, Baycheva, Mila, Buchal, Gebhard, Monavari, Ardeshir Ahmad, Augoustides-Savvopoulou, Persephone, Mandel, Hanna, Gregersen, Niels

“…Deficiency of the sulfide metabolizing protein ETHE1 is the cause of ethylmalonic encephalopathy (EE), an inherited and severe metabolic disorder. To study the…”
Get full text

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…”
Get full text

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

Get full text