List of works - Walla Al-Hertani

A checklist for managed access programmes for reimbursement co-designed by Canadian patients and caregivers

article

ALG9-CDG: New clinical case and review of the literature

scientific article published on 6 September 2017

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene

scientific article published on 13 June 2019

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication

scientific article published on 17 March 2011

Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

scientific article published on 17 May 2019

Engagement of Canadian Patients with Rare Diseases and Their Families in the Lifecycle of Therapy: A Qualitative Study.

scientific article published on 3 January 2018

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

scientific article published on 22 December 2017

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

scientific article published on 2 August 2017

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

scientific article published on 01 November 2019

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

scientific article published on 22 November 2016

Identification of a de novo case of -related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care

scientific article published on 15 October 2018

Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease

scientific article published on 01 June 2019

Lipopolysaccharide-binding protein- and CD14-dependent activation of mitogen-activated protein kinase p38 by lipopolysaccharide in human neutrophils is associated with priming of respiratory burst.

scientific article published on August 2002

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

scientific article

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

scientific article published on 25 April 2019

Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism

scientific article published on 14 May 2012

Role of MyD88 in diminished tumor necrosis factor alpha production by newborn mononuclear cells in response to lipopolysaccharide.

scientific article published on March 2004

Severe craniosynostosis in an infant with deletion 22q11.2 syndrome

Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum

scientific article published on 19 June 2019

The effect of partial vs. full hydroxyapatite coating on periprosthetic bone quality around the canine madreporic femoral stem

scientific article published on 01 September 2000

The emergency department as an asthma surveillance tool at the community level: a decline in the burden of pediatric asthma in halifax, Canada

scientific article published on 01 October 2005

Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation

scientific article published on 22 July 2019

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.