Publications by authors named "Joy Yaplito-Lee"

24Publications

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.

JIMD Rep 2020 Nov 20;56(1):34-39. Epub 2020 Aug 20.

Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville Victoria Australia.

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http://dx.doi.org/10.1002/jmd2.12161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653237PMC
November 2020

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

JIMD Rep 2020 Nov 18;56(1):14-19. Epub 2020 Aug 18.

Department of Paediatrics University of Melbourne Melbourne Victoria Australia.

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http://dx.doi.org/10.1002/jmd2.12158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653246PMC
November 2020

Neuronal ceroid lipofuscinosis type 2: an Australian case series.

J Paediatr Child Health 2020 Aug 24;56(8):1210-1218. Epub 2020 Apr 24.

Genetic Metabolic Disorders Service, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.14890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497200PMC
August 2020

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.

JIMD Rep 2020 Jan 12;51(1):11-16. Epub 2019 Nov 12.

Department of Metabolic Medicine Royal Children's Hospital Melbourne Australia.

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http://dx.doi.org/10.1002/jmd2.12081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012737PMC
January 2020

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II.

Cogn Neuropsychol 2017 09;34(6):347-356

d Department of Metabolic Medicine , Royal Children's Hospital , Melbourne , VIC , Australia.

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http://dx.doi.org/10.1080/02643294.2017.1401530DOI Listing
September 2017

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

J Inherit Metab Dis 2015 May 16;38(3):459-66. Epub 2014 Dec 16.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia,

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http://dx.doi.org/10.1007/s10545-014-9801-9DOI Listing
May 2015

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

Brain 2014 Nov 14;137(Pt 11):2903-8. Epub 2014 Aug 14.

1 Murdoch Childrens Research Institute, Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Vic 3052, Australia 3 Department of Paediatrics, University of Melbourne, Parkville, Vic 3052, Australia

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http://dx.doi.org/10.1093/brain/awu216DOI Listing
November 2014

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

Am J Hum Genet 2014 Mar 13;94(3):453-61. Epub 2014 Feb 13.

Division of Biochemical Diseases, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Treatable Intellectual Disability Endeavour in British Columbia, BC Children's Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2014.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951944PMC
March 2014

ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.

Mol Genet Metab 2013 Sep-Oct;110(1-2):170-5. Epub 2013 Jun 7.

Developmental Medicine, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2013.05.020DOI Listing
March 2014

Histopathological findings in livers of patients with urea cycle disorders.

Mol Genet Metab 2013 Mar 23;108(3):161-5. Epub 2013 Jan 23.

Metabolic Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130001
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http://dx.doi.org/10.1016/j.ymgme.2013.01.006DOI Listing
March 2013

A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses.

Paediatr Anaesth 2012 Aug 2;22(8):737-44. Epub 2012 Mar 2.

Department of Paediatric Anaesthesia and Pain Management, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1460-9592.2012.03825.xDOI Listing
August 2012

Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.

Pediatrics 2008 Nov;122(5):1003-8

Metabolic Service, Genetic Health Services Victoria, Victoria and Royal Children's Hospital, Melbourne, Australia.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2007-3502DOI Listing
November 2008

New indications and controversies in arginine therapy.

Clin Nutr 2008 Aug 21;27(4):489-96. Epub 2008 Jul 21.

Metabolic Service, Genetic Health Services Victoria, Murdoch Children's Research Institute, 10th Floor, The Royal Children's Hospital, Flemington Road, Parkville 3052, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.clnu.2008.05.007DOI Listing
August 2008

Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.

Mol Genet Metab 2008 Jul 14;94(3):287-91. Epub 2008 Apr 14.

Metabolic Service, Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2008.03.005DOI Listing
July 2008