Yolanda Lillquist

Yolanda Lillquist

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Yolanda Lillquist

Yolanda Lillquist

Publications by authors named "Yolanda Lillquist"

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13Publications

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Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.

Mol Genet Metab 2015 Mar 3;114(3):409-14. Epub 2014 Dec 3.

Department of Pediatrics, University of British Columbia, Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2014.11.014DOI Listing
March 2015

Effects of a Pseudomonas aeruginosa eradication policy in a cystic fibrosis clinic.

Curr Opin Pulm Med 2012 Nov;18(6):615-21

Department of Pediatrics, Faculty of Medicine, University of British Columbia, and Cystic Fibrosis Clinic, BC Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1097/MCP.0b013e328358f5a2DOI Listing
November 2012

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.

Am J Med Genet A 2011 Oct 9;155A(10):2571-7. Epub 2011 Sep 9.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital Vancouver, British Columbia, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.34220
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http://dx.doi.org/10.1002/ajmg.a.34220DOI Listing
October 2011

Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described.

J Child Neurol 2011 Jul 18;26(7):851-7. Epub 2011 May 18.

Department of Biochemical Diseases, BC Children's and Women's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1177/0883073810396582DOI Listing
July 2011

Economic effects of an eradication protocol for first appearance of Pseudomonas aeruginosa in cystic fibrosis patients: 1995 vs. 2009.

J Cyst Fibros 2011 May 18;10(3):175-80. Epub 2011 Feb 18.

Cystic Fibrosis Clinic, BC Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.jcf.2011.01.002DOI Listing
May 2011

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

Am J Med Genet A 2011 Apr 15;155A(4):840-4. Epub 2011 Mar 15.

Department of Paediatrics, Children's and Women's Health Centre, Vancouver, British Columbia, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33881
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http://dx.doi.org/10.1002/ajmg.a.33881DOI Listing
April 2011

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.

Mol Genet Metab 2009 Apr 13;96(4):201-7. Epub 2009 Feb 13.

Department of Pediatrics and Child Health, University of Manitoba, Children's Hospital, CE208-820 Sherbrook Street, Winnipeg, MB, Canada R3A 1R9.

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http://dx.doi.org/10.1016/j.ymgme.2008.12.018DOI Listing
April 2009

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

Can J Public Health 2008 Jul-Aug;99(4):276-80

Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, BC.

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October 2008

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Mol Genet Metab 2008 May 13;94(1):127-31. Epub 2008 Feb 13.

Department of Pediatrics, BC's Children's Hospital and University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2008.01.003DOI Listing
May 2008

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

Mol Genet Metab 2005 Dec 21;86 Suppl 1:S148-52. Epub 2005 Sep 21.

Department of Pathology and Laboratory Medicine, University of British Columbia, Children's and Women's Health Centre of British Columbia, Vancouver, BC, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500257
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http://dx.doi.org/10.1016/j.ymgme.2005.07.032DOI Listing
December 2005

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.

Ann Neurol 2005 Jul;58(1):164-7

Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ana.20532DOI Listing
July 2005