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Mairead McGinn

Explore the profile of Mairead McGinn including associated specialties, affiliations and a list of published articles. Areas
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Articles 4
Citations 267
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Recent Articles
1.
McKay C, Abid N, McGinn M, Whittaker-Axon S
Arch Dis Child Educ Pract Ed . 2024 Dec; PMID: 39658137
No abstract available.
2.
Whyte M, Simmons J, Moseley S, Fujita K, Bishop N, Salman N, et al.
Lancet Diabetes Endocrinol . 2018 Dec; 7(2):93-105. PMID: 30558909
Background: Our previous phase 2, open-label study of 11 infants and young children with life-threatening perinatal or infantile hypophosphatasia showed 1 year safety and efficacy of asfotase alfa, an enzyme...
3.
Whyte M, Greenberg C, Salman N, Bober M, McAlister W, Wenkert D, et al.
N Engl J Med . 2012 Mar; 366(10):904-13. PMID: 22397652
Background: Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates extracellularly, leading to rickets or osteomalacia. Severely affected babies often die...
4.
Reardon W, McGinn M, King M, Earley M
Am J Med Genet A . 2003 Sep; 122A(1):84-8. PMID: 12949979
We report the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints. Observed in a sister and brother, comparison with other reports has failed to identify an established...