Search Results - "Mhanni, Aizeddin A"

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome by Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa

“…Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically…”
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Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene by Hasnain, Afia, Burnett, Sherri, Agatep, Ronald, Spriggs, Elizabeth, Chodirker, Bernard, Mhanni, Aizeddin Aziz A

“…Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible…”
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Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations by Mhanni, Aizeddin A., Rockman‐Greenberg, Cheryl, Ryner, Lawrence, Bunge, Martin

“…Pyruvate carboxylase (PC) deficiency (MIM# 266150) is an autosomal recessive disorder with three subtypes. Patients homozygous for the c.1828G > A mutation in…”
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Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres by Mhanni, Aizeddin A., Auray-Blais, Christiane, Boutin, Michel, Johnston, Alie, LeMoine, Kaye, Patterson, Jill, Aerts, Johannes M.F.G., West, Michael L., Rockman-Greenberg, Cheryl

“…Enzyme replacement therapy (ERT) has been shown to stabilize certain aspects of Fabry disease (FD). However, in some patients on ERT, high antibody titres have…”
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Ketogenic Diet in Alpers-Huttenlocher Syndrome by Joshi, Charuta N., MBBS, Greenberg, Cheryl R., MD, CM, Mhanni, Aizeddin A., MD, PhD, Salman, Michael S., MBBS, PhD

“…We report on a young girl with Alpers-Huttenlocher syndrome, as confirmed by mitochondrial polymerase gamma sequencing, who was treated with the classic (4…”
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Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis by Leung, Edward C. W., Mhanni, Aizeddin A., Reed, Martin, Whyte, Michael P., Landy, Hal, Greenberg, Cheryl R.

“…Hypophosphatasia (HPP) is the metabolic bone disease caused by loss-of-function mutation within the gene that encodes the “tissue nonspecific” isoenzyme of…”
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Prolonged Survival and Serial Magnetic Resonance Imaging/Magnetic Resonance Spectroscopy Changes in Infantile Krabbe Disease by Udow, Sean, MD, Bunge, Martin, MD, Ryner, Lawrence, PhD, Mhanni, Aizeddin A., MBChB, PhD, Salman, Michael S., MBBS, PhD

“…Abstract Krabbe disease may present during infancy, late infancy, or adulthood. Earlier-onset disease is associated with shorter survival times. We present a…”
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Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia by Mhanni, Aizeddin A., Booth, Frances A., Del Bigio, Marc R., Hartley, Jessica N.

“…Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and…”
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Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring by Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, Araújo, Helena Caldeira, Coskun, Turgay, Diogo, Luisa, Geraghty, Michael, Haliloglu, Goknur, Konstantopoulou, Vassiliki, Leuzzi, Vincenzo, Levtova, Alina, MacKenzie, Jennifer, Maranda, Bruno, Mhanni, Aizeddin A., Mitchell, Grant, Morris, Andrew, Newlove, Theresa, Renaud, Deborah, Scaglia, Fernando, Valayannopoulos, Vassili, van Spronsen, Francjan J., Verbruggen, Krijn T., Yuskiv, Nataliya, Nyhan, William, Schulze, Andreas

“…We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability…”
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Reflex Seizures in a Patient with CDKL5 Deficiency Disorder by Peikes, Tyler, Hartley, Jessica N, Mhanni, Aizeddin A, Greenberg, Cheryl R, Appendino, Juan Pablo

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A novel WFS1 variant associated with isolated congenital cataracts by Krutish, Angela, Elmore, James, Ilse, Werner, Johnston, Janine L, Hittel, Dustin, Kerr, Marina, Khan, Aneal, Rockman-Greenberg, Cheryl, Mhanni, Aizeddin A

“…Biallelic variants in the gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of…”
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SCN1A Mutation Associated With Intractable Myoclonic Epilepsy and Migraine Headache by Frosk, Patrick, Mhanni, Aizeddin A., Rafay, Mubeen F.

“…Mutations in the SCN1A gene are associated with a variety of epilepsy syndromes and more recently with familial hemiplegic migraine. The spectrum of phenotypes…”
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Isolated sulfite oxidase deficiency: a founder mutation by Mhanni, Aizeddin A, Greenberg, Cheryl R, Spriggs, Elizabeth L, Agatep, Ronald, Sisk, Reena Ray, Prasad, Chitra

“…Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic…”
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Evaluation of a Clinical Genetics Service – A Quality Initiative by Elliott, Alison M., Chodirker, Bernard N., Bocangel, Patricia, Mhanni, Aizeddin A.

“…Paper-based surveys are an effective means of evaluating the quality of a clinical service. As part of ongoing quality improvement initiatives within our…”
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Germline mosaicism in X-linked periventricular nodular heterotopia by LaPointe, Monique M, Spriggs, Elizabeth L, Mhanni, Aizeddin A

“…X-linked periventricular nodular heterotopia is a disorder of neuronal migration resulting from mutations in the filamin A gene. This is an X-linked dominant…”
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Immunological detection of changes in genomic DNA methylation during early zebrafish development by MacKay, Amy B, Mhanni, Aizeddin A, McGowan, Ross A, Krone, Patrick H

“…DNA methylation reprogramming, the erasure of DNA methylation patterns shortly after fertilization and their reestablishment during subsequent early…”
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Ornithine Transcarbamylase Deficiency Presenting as Recurrent Abdominal Pain in Childhood by Mhanni, Aizeddin A, Prasad, Chitra, Rockman-Greenberg, Cheryl

“…Recurrent abdominal pain remains one of the most common symptoms in pediatrics. We present the case of a 3-year-old girl who had recurrent episodes of…”
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Recurrent acute necrotizing encephalopathy in a canadian aboriginal child by Howayyer, Essam, Mhanni, Aizeddin A, Wrogemann, Jens, Salman, Michael S

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Genetic Counseling in a Busy Pediatric Metabolic Practice by Hartley, Jessica N., Greenberg, Cheryl R., Mhanni, Aizeddin A.

“…Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term…”
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Chromosome microarray and undiagnosed seizures in a pediatric patient by Dawson, Angelika J, Mhanni, Aizeddin A, Booth, Frances A, Seargeant, Lorne, Bernier, Daniele, Tomiuk, Michelle, Hartley, Jessica N, Strecker, Michelle, Hovanes, Karine

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