Patrick Ferreira
Calgary, AB, Canada
Last Updated: 09/26/2026
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Found 13 publications
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: January 24, 2024
Severe retinal degeneration in a patient with Canavan disease.
Journal: Ophthalmic genetics
Published: September 25, 2020
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.
Journal: American journal of medical genetics. Part A
Published: May 06, 2020
ALG9-CDG: New clinical case and review of the literature.
Journal: Molecular genetics and metabolism reports
Published: May 15, 2017
Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.
Journal: Molecular genetics and metabolism
Published: January 25, 2017
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
Journal: JIMD reports
Published: December 20, 2016
Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.
Journal: Ophthalmic genetics
Published: April 08, 2016
Severe Congenital Protein C Deficiency: Practical Aspects of Management.
Journal: Pediatric blood & cancer
Published: January 25, 2016
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.
Journal: Neurology. Genetics
Published: October 12, 2015
Last Updated: 09/26/2026