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Karen Tylee

Explore the profile of Karen Tylee including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 18
Citations 283
Followers 0
Related Specialties
Genetics
Endocrinology
Pediatrics
Top 10 Co-Authors
Jean Mercer
Simon A Jones
Brian W Bigger
Heather J Church
Arunabha Ghosh
Robert F Wynn
Heather Church
J Ed Wraith
J Edmond Wraith
Ida V D Schwartz
Published In
J Inherit Metab Dis
Mol Genet Metab
Am J Med Genet A
JIMD Rep
Mol Genet Genomic Med
Affiliations
Soon will be listed here.
Recent Articles
1.
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment
Wu T, Brown H, Church H, Kershaw C, Hutton R, Egerton C, et al.
Mol Genet Metab . 2024 Mar; 142(1):108349. PMID: 38458124
Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease. Typically, loss of motor and cognitive skills precedes early death. The disease is characterised by deficient lysosomal arylsulphatase A (ARSA) activity...
2.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo G, Westermann L, Yorgan T, Sturznickel J, Ludwig N, Ammer L, et al.
Genet Med . 2021 Aug; 23(12):2369-2377. PMID: 34341521
Purpose: Pathogenic variants in GNPTAB and GNPTG, encoding different subunits of GlcNAc-1-phosphotransferase, cause mucolipidosis (ML) II, MLIII alpha/beta, and MLIII gamma. This study aimed to investigate the cellular and molecular...
3.
High dose genistein in Sanfilippo syndrome: A randomised controlled trial
Ghosh A, Rust S, Langford-Smith K, Weisberg D, Canal M, Breen C, et al.
J Inherit Metab Dis . 2021 May; 44(5):1248-1262. PMID: 34047372
The aim of this study was to evaluate the efficacy of high dose genistein aglycone in Sanfilippo syndrome (mucopolysaccharidosis type III). High doses of genistein aglycone have been shown to...
4.
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses
Jones S, Marsden D, Koutsoukos T, Sniadecki J, Tylee K, Phillippo S, et al.
Mol Genet Metab . 2020 Jun; 130(4):255-261. PMID: 32563631
Background: Mucopolysaccharidoses (MPS) are a group of rare, inherited metabolic diseases that result from a deficiency in one of several lysosomal enzymes essential for stepwise glycosaminoglycan (GAG) degradation, leading to...
5.
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Jahic A, Gunther S, Muschol N, Stadheim B, Braaten O, Hyldebrandt H, et al.
Mol Genet Genomic Med . 2019 Jul; 7(9):e00615. PMID: 31319022
Background: Mucopolysaccharidosis type I (MPS I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi-systemic disease. It is caused by a reduced or absent alpha-l iduronidase (IDUA)...
6.
Identification of patients with Pompé disease using routine pathology results: PATHFINDER (creatine kinase) study
Reynolds T, Tylee K, Booth K, Wierzbicki A
J Clin Pathol . 2019 Jul; 72(12):805-809. PMID: 31308256
Aims: Adult-onset inherited errors of metabolism can be difficult to diagnose. Some cases of potentially treatable myopathy are caused by autosomal recessive acid α-1,4 glucosidase (acid maltase) deficiency (Pompé disease)....
7.
Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I
Ghosh A, Liao A, OLeary C, Mercer J, Tylee K, Goenka A, et al.
Mol Ther Methods Clin Dev . 2019 Apr; 13:321-333. PMID: 30976609
Enzyme replacement therapy with laronidase is an established treatment for Mucopolysaccharidosis type I (MPS I), but its efficacy may be limited by the development of anti-drug antibodies, which inhibit cellular...
8.
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease
Edmiston R, Wilkinson S, Jones S, Tylee K, Broomfield A, Bruce I
JIMD Rep . 2018 Sep; 45:1-8. PMID: 30209781
Background: Inclusion cell disease (I-cell) is a rare autosomal recessive metabolic disease involving multiple organ systems, associated with a severely restricted life expectancy. No curative therapy is currently available, with...
9.
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
Ghosh A, Mercer J, Mackinnon S, Yue W, Church H, Beesley C, et al.
Hum Mutat . 2017 Jul; 38(11):1555-1568. PMID: 28752568
Mucopolysaccharidosis Type I (MPS I) is a lysosomal storage disorder with varying degrees of phenotypic severity caused by mutations in IDUA. Over 200 disease-causing variants in IDUA have been reported....
10.
Maternal mosaicism for deletion clarifies recurrence risk in MPS I
Breen C, Mercer J, Jones S, Jahic A, Heptinstall L, Tylee K, et al.
Hum Genome Var . 2016 Oct; 3:16031. PMID: 27766162
Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. It is caused by biallelic loss-of-function variants in encoding alpha-l iduronidase. Here, we describe an individual affected...