List of works by Joy Yaplito-Lee

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

scientific article published on 3 March 2016

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

scientific article published on 02 March 2012

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

scientific article

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

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

scientific article published on 7 June 2013

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II.

scientific article published in September 2017

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

scientific article

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

scientific article published on 14 August 2014

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

scientific article published on 20 July 2009

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

scientific article published on 05 April 2017

Histopathological findings in livers of patients with urea cycle disorders

scientific article published on 23 January 2013

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

scientific article published on 12 November 2019

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

scientific article

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

scientific article published on 13 February 2014

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

scientific article

Neuronal Ceroid Lipofuscinosis type 2: an Australian case series

scientific article published on 24 April 2020

New indications and controversies in arginine therapy

scientific article published on 21 July 2008

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

scientific article published on 14 April 2008

SURF1 deficiency: a multi-centre natural history study.

scientific article published on 05 July 2013

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

scientific article published on 18 August 2020

Successful treatment of molybdenum cofactor deficiency type A with cPMP.

scientific article published on 12 April 2010

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain

scientific article published in 2022

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)

scientific article published on 27 November 2009

VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT

scientific article published on 01 December 2020

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