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/jmd2.121612020
Journal article
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.
DOI: 10.1002/jmd2.121582020
Journal article
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder
DOI: 10.1002/ajmg.a.619362020
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.2020.1006172019
Journal article
Small intestinal bacterial overgrowth in children with intestinal failure on home parenteral nutrition
DOI: 10.1002/jgh3.121742018
Journal article
Metabolite diagnosis of primary hyperoxaluria type 3
DOI: 10.1007/s00467-018-3967-62018
Journal article
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
DOI: 10.1016/j.ajhg.2018.05.004
RECENT SCHOLARLY WORKS
2018
Journal article
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
DOI: 10.1016/j.spen.2017.03.0012018
Journal article
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
DOI: 10.1002/ajmg.a.386582018
Journal article
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
DOI: 10.1515/jpem-2017-05012018
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.136592017
Journal article
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
DOI: 10.1007/s10545-017-0015-92017
Journal article
Unravelling the metabolic impact of SBS-associated microbial dysbiosis: Insights from the piglet short bowel syndrome model
DOI: 10.1038/srep433262015
Journal article
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening
DOI: 10.1016/j.ymgme.2015.06.0082015
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