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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Histopathological findings in livers of patients with urea cycle disorders

artículo científico

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2008

Neuronal Ceroid Lipofuscinosis type 2: an Australian case series

scientific article published on 24 April 2020

New indications and controversies in arginine therapy

artículo científico publicado en 2008

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

artículo científico publicado en 2008

SURF1 deficiency: a multi-centre natural history study.

artículo científico publicado en 2013

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

artículo científico publicado en 2020

Successful treatment of molybdenum cofactor deficiency type A with cPMP.

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2020

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