Last Updated: 09/26/2026
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Found 13 publications
2021 Canadian Surgery Forum: Virtual, online Sept. 21-24, 2021.
Journal: Canadian journal of surgery. Journal canadien de chirurgie
Published: April 28, 2022
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Journal: American journal of human genetics
Published: August 09, 2020
What solid organ transplant healthcare providers should know about renin-angiotensin-aldosterone system inhibitors and COVID-19.
Journal: Clinical transplantation
Published: April 28, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Journal: Molecular genetics and metabolism
Published: April 21, 2020
Defining a new immune deficiency syndrome: MAN2B2-CDG.
Journal: The Journal of allergy and clinical immunology
Published: June 09, 2019
Etonogestrel Subdermal Implant-Associated Regression of Endometrial Intraepithelial Neoplasia.
Journal: Obstetrics and gynecology
Published: March 15, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Journal: American journal of human genetics
Published: October 29, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Journal: American journal of human genetics
Published: October 31, 2017
Oral D-galactose supplementation in PGM1-CDG.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 23, 2016
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.
Journal: The Journal of clinical endocrinology and metabolism
Published: October 13, 2016
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Journal: American journal of human genetics
Published: September 21, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Journal: The Journal of pediatrics
Published: November 07, 2015
Last Updated: 09/26/2026