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Email

jjpitt@unimelb.edu.au

Credentials


Position

Paediatrics Royal Children's Hospital
Education
PhD
La Trobe University
Bachelor of Science (Honours)
University of Melbourne

Dr. James Pitt

Honorary
Paediatrics Royal Children's Hospital

38 Scholarly works
0 Projects

HIGHLIGHTS

  • 2020

    Journal article

    Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia
    DOI: 10.1002/jmd2.12161
  • 2020

    Journal article

    Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.
    DOI: 10.1002/jmd2.12158
  • 2020

    Journal article

    ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder
    DOI: 10.1002/ajmg.a.61936
  • 2020

    Journal article

    Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.
    DOI: 10.1016/j.ymgmr.2020.100617
  • 2019

    Journal article

    Small intestinal bacterial overgrowth in children with intestinal failure on home parenteral nutrition
    DOI: 10.1002/jgh3.12174
  • 2018

    Journal article

    Metabolite diagnosis of primary hyperoxaluria type 3
    DOI: 10.1007/s00467-018-3967-6
  • 2018

    Journal article

    Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
    DOI: 10.1016/j.ajhg.2018.05.004
James Pitt

Latest Honours,
Awards and Fellowships


2000
Fellow of the HUman Genetics Society of Australasia

RECENT SCHOLARLY WORKS

  • 2018

    Journal article

    Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
    DOI: 10.1016/j.spen.2017.03.001
  • 2018

    Journal article

    Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
    DOI: 10.1002/ajmg.a.38658
  • 2018

    Journal article

    Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
    DOI: 10.1515/jpem-2017-0501
  • 2018

    Journal article

    Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots
    DOI: 10.1111/jpc.13659
  • 2017

    Journal article

    Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
    DOI: 10.1007/s10545-017-0015-9
  • 2017

    Journal article

    Unravelling the metabolic impact of SBS-associated microbial dysbiosis: Insights from the piglet short bowel syndrome model
    DOI: 10.1038/srep43326
  • 2015

    Journal article

    Metabolite studies in HIBCH and ECHS1 defects: Implications for screening
    DOI: 10.1016/j.ymgme.2015.06.008
  • 2015

    Journal article

    Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations
    DOI: 10.1007/s10545-014-9801-9

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