Publications by authors named "Patrick Ferreira"

19Publications

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.

Am J Med Genet A 2020 Dec 7;182(12):3040-3047. Epub 2020 Oct 7.

The Department of Medical Genetics, Cumming School of Medicine, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61898DOI Listing
December 2020

Severe retinal degeneration in a patient with Canavan disease.

Ophthalmic Genet 2020 Sep 25:1-4. Epub 2020 Sep 25.

Department of Ophthalmology and Visual Sciences, University of Alberta , Edmonton, Canada.

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http://dx.doi.org/10.1080/13816810.2020.1827441DOI Listing
September 2020

Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the Gene.

N Engl J Med 2019 03;380(12):1150-1157

From the Departments of Laboratory Medicine (C.M.H., S.L.F., T.J.L., K.J.J., A.N.H.) and Medicine (A.N.H.) and the Kidney Research Institute (A.N.H.), University of Washington, Seattle; and the Department of Endocrinology and Metabolism (H.B.) and the Alberta Children's Hospital Research Institute (B.A.), University of Calgary, and the Division of Medical Genetics, Alberta Children's Hospital (R.L., P.F., J.L.M.), Calgary, and the Department of Pathology, Children's & Women's Health Centre of British Columbia, Vancouver (L.B.) - all in Canada.

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http://dx.doi.org/10.1056/NEJMoa1807841DOI Listing
March 2019

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

Mol Genet Metab Rep 2017 Dec 6;13:55-63. Epub 2017 Sep 6.

Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2017.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596360PMC
December 2017

Cover Image, Volume 173A, Number 10, October 2017.

Am J Med Genet A 2017 Oct;173(10)

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38481DOI Listing
October 2017

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

Am J Med Genet A 2017 Oct 11;173(10):2596-2604. Epub 2017 Jul 11.

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.38355
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http://dx.doi.org/10.1002/ajmg.a.38355DOI Listing
October 2017

Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.

Mol Genet Metab 2017 04 1;120(4):317-324. Epub 2017 Mar 1.

Department of Chemistry, University of Texas at San Antonio, San Antonio, TX, USA; Department of Chemistry, Georgia State University, Atlanta, GA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421356PMC
April 2017

Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.

JIMD Rep 2017 21;36:117-120. Epub 2017 Feb 21.

Department of Research Administration, Henry Ford Hospital, Detroit, MI, 48202, USA.

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http://dx.doi.org/10.1007/8904_2017_12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680287PMC
February 2017

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Severe Congenital Protein C Deficiency: Practical Aspects of Management.

Pediatr Blood Cancer 2016 08 2;63(8):1488-90. Epub 2016 May 2.

Pediatric Hematology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/pbc.25997DOI Listing
August 2016

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.

Neurol Genet 2016 Feb 22;2(1):e38. Epub 2015 Dec 22.

Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817904PMC
February 2016

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

Ophthalmic Genet 2017 Jan-Feb;38(1):88-90. Epub 2016 Apr 7.

a Department of Ophthalmology and Visual Sciences , University of Alberta , Edmonton , Alberta , Canada.

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http://dx.doi.org/10.3109/13816810.2015.1137327DOI Listing
November 2017

Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.

Pediatr Dev Pathol 2011 May-Jun;14(3):240-3. Epub 2010 Oct 14.

Department of Biology, University of Victoria, Victoria, British Columbia, V8W 3N5 Canada.

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http://journals.sagepub.com/doi/10.2350/09-11-0744-CR.1
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http://dx.doi.org/10.2350/09-11-0744-CR.1DOI Listing
October 2011

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

Blood Cells Mol Dis 2007 May-Jun;38(3):287-93. Epub 2006 Dec 29.

Department of Biology, Centre for Biomedical Research, University of Victoria, Victoria, British Columbia, Canada.

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http://dx.doi.org/10.1016/j.bcmd.2006.11.003DOI Listing
June 2007