Janice M Fletcher
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Explore the profile of Janice M Fletcher including associated specialties, affiliations and a list of published articles.
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31
Citations
744
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Recent Articles
1.
Rogers A, De Jong L, Waters W, Rawlings L, Simons K, Gao S, et al.
Aust N Z J Obstet Gynaecol
. 2024 Apr;
64(5):467-474.
PMID: 38577897
Background: Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. Aims: Assess clinical outcomes...
2.
Kaub P, Sharp P, Ranieri E, Fletcher J
J Paediatr Child Health
. 2021 Nov;
58(4):630-635.
PMID: 34773316
Aim: To determine if there is any correlation with a clinical indication of ASD and a biochemical diagnosis of SLOS, based on historical test request and assay data. Methods: Six...
3.
Frazier A, Compton A, Kishita Y, Hock D, Welch A, Amarasekera S, et al.
Med
. 2021 Feb;
2(1):49-73.
PMID: 33575671
Background: In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the...
4.
Fuller M, Perry R, Saiedi M, Fletcher J, Selvanayagam J
Mol Genet Metab Rep
. 2020 Dec;
25:100697.
PMID: 33335842
Fabry disease (FD) results from a deficiency in the exoglycohydrolase, α-galactosidase A (AGA), an enzyme required for the sequential degradation of glycosphingolipids, which consequently accumulate in the lysosomes of affected...
5.
Chin S, Saville J, McDermott B, Zankl A, Fletcher J, Fuller M
JIMD Rep
. 2020 Sep;
55(1):68-74.
PMID: 32905071
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, -acetylgalactosamine 6-sulphatase (GALNS). Consequently, partially degraded GAG, chondroitin 6-sulfate...
6.
Byrne A, Arts P, Polyak S, Feng J, Schreiber A, Kassahn K, et al.
NPJ Genom Med
. 2019 Nov;
4:28.
PMID: 31754459
We describe a sibling pair displaying an early infantile-onset, progressive neurodegenerative phenotype, with symptoms of developmental delay and epileptic encephalopathy developing from 12 to 14 months of age. Using whole...
7.
Saville J, McDermott B, Chin S, Fletcher J, Fuller M
J Inherit Metab Dis
. 2019 Nov;
43(3):558-563.
PMID: 31707742
Gaucher disease (GD) is an inherited metabolic disorder characterised by impaired catabolism of the glycosphingolipid, glucosylceramide. The deacetylated derivative, glucosylsphingosine (GluSph, lyso-Gb1) has materialised as a biomarker for GD. Further...
8.
Saville J, McDermott B, Fletcher J, Fuller M
Genet Med
. 2018 Aug;
21(3):753-757.
PMID: 30061628
Purpose: Expanding treatments for the mucopolysaccharidoses-a family of genetic disorders-place unprecedented demands for accurate, timely diagnosis because best outcomes are seen with early initiation of appropriate therapies. Here we sought...
9.
Talbot A, Nicholls K, Fletcher J, Fuller M
Mol Genet Metab
. 2017 Aug;
122(1-2):121-125.
PMID: 28847675
Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). As a direct consequence, the deacetylated derivative, globotriaosylsphingosine (lyso-Gb3), is...
10.
Saville J, Smith N, Fletcher J, Fuller M
Anal Chim Acta
. 2017 Jan;
955:79-85.
PMID: 28088283
Impaired sulfatide catabolism is the primary biochemical insult in patients with the inherited neurodegenerative disease, metachromatic leukodystrophy (MLD), and sulfatide elevation in body fluids is useful in the diagnostic setting....