James J McGill
Overview
Explore the profile of James J McGill including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
185
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0
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Recent Articles
1.
Demetriou K, Nisbet J, Coman D, Ewing A, Phillips L, Smith S, et al.
Mol Genet Metab
. 2024 Jun;
142(4):108516.
PMID: 38941880
Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at...
2.
Ewing A, Cheetham S, McGill J, Sharkey M, Walker R, West J, et al.
Am J Med Genet A
. 2021 May;
185(7):2070-2083.
PMID: 33960642
Basal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well...
3.
Summers K, West J, Hattam A, Stark D, McGill J, West M
Med J Aust
. 2012 Nov;
197(9):494-7.
PMID: 23121584
Marfan syndrome is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutation of the FBN1 gene on human chromosome 15. There...
4.
Conway L, Robertson T, McGill J, Hanson J
Med J Aust
. 2011 Nov;
195(10):581-2.
PMID: 22107001
No abstract available.
5.
McHugh D, Cameron C, Abdenur J, Abdulrahman M, Adair O, Al Nuaimi S, et al.
Genet Med
. 2011 Feb;
13(3):230-54.
PMID: 21325949
Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of amino acids and acylcarnitines in dried...
6.
Sharman R, Sullivan K, Young R, McGill J
J Inherit Metab Dis
. 2010 Oct;
33 Suppl 3:S417-20.
PMID: 20882350
Investigations into the biochemical markers associated with executive function (EF) impairment in children with early and continuously treated phenylketonuria (ECT-PKU) remain largely phenylalanine-only focused, despite experimental data showing that a...
7.
Summers K, West J, Peterson M, Stark D, McGill J, West M
Med J Aust
. 2006 Jun;
184(12):627-31.
PMID: 16803443
Marfan syndrome (MFS) is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutations in the FBN1 gene on chromosome 15. Diagnosis...