Karen Tylee

Affiliations

Willink Biochemical Genetics Unit, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

Publications (10)

Identification of patients with Pompé disease using routine pathology results: PATHFINDER (creatine kinase) study.

Journal of clinical pathology

Avec: Tim M Reynolds , Karen Tylee , Kathryn Booth , Anthony S Wierzbicki , Auteur inconnu , Auteur inconnu

Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I.

Molecular therapy. Methods & clinical development

Avec: Arunabha Ghosh , Aiyin Liao , Claire O'Leary , Jean Mercer , Karen Tylee , Anu Goenka , Rebecca Holley , Simon A Jones , Brian W Bigger

High dose genistein in Sanfilippo syndrome: A randomised controlled trial.

Journal of inherited metabolic disease

Avec: Arunabha Ghosh , Stewart Rust , Kia Langford-Smith , Daniel Weisberg , Maria Canal , Catherine Breen , Michelle Hepburn , Karen Tylee , Frédéric M Vaz , Andy Vail , Frits Wijburg , Claire O'Leary , Helen Parker , J Ed Wraith , Brian W Bigger , Simon A Jones

I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease.

JIMD reports

Avec: Rachel Edmiston , Stuart Wilkinson , Simon Jones , Karen Tylee , Alexander Broomfield , Iain A Bruce

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.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Giorgia Di Lorenzo , Lena M Westermann , Timur A Yorgan , Julian Stürznickel , Nataniel F Ludwig , Luise S Ammer , Anke Baranowsky , Shiva Ahmadi , Elham Pourbarkhordariesfandabadi , Sandra R Breyer , Tim N Board , Anne Foster , Jean Mercer , Karen Tylee , Renata Voltolini Velho , Michaela Schweizer , Thomas Renné , Thomas Braulke , Dévora N Randon , Fernanda Sperb-Ludwig , Louise Lapagesse de Camargo Pinto , Carolina Araujo Moreno , Denise P Cavalcanti , Michael Amling , Kerstin Kutsche , Dominic Winter , Nicole M Muschol , Ida V D Schwartz , Tim Rolvien , Tatyana Danyukova , Thorsten Schinke , Sandra Pohl

The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I.

Molecular genetics and metabolism

Avec: A Broomfield , J Sims , J Mercer , P Hensman , A Ghosh , K Tylee , K M Stepien , A Oldham , N Prathivadi Bhayankaram , R Wynn , N B Wright , S A Jones , S Wilkinson

Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.

Molecular genetics and metabolism

Avec: Simon A Jones , Deborah Marsden , Tony Koutsoukos , Jennifer Sniadecki , Karen Tylee , Sarah Phillippo , Emil Kakkis

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Molecular genetics & genomic medicine

Avec: Amir Jahic , Sven Günther , Nicole Muschol , Barbro Fossøy Stadheim , Øivind Braaten , Hanne Kjensli Hyldebrandt , Gé-Ann Kuiper , Karen Tylee , Frits A Wijburg , Christian Beetz

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

Molecular genetics and metabolism

Avec: A Broomfield , J Davison , J Roberts , C Stewart , P Hensman , C Beesley , K Tylee , S Rust , B Schwahn , E Jameson , S Vijay , S Santra , S Sreekantam , U Ramaswami , A Chakrapani , J Raiman , M A Cleary , S A Jones

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.

Molecular genetics and metabolism

Avec: Teresa H Y Wu , Heather A Brown , Heather J Church , Christopher J Kershaw , Rebekah Hutton , Christine Egerton , James Cooper , Karen Tylee , Rebecca N Cohen , David Gokhale , Dipak Ram , Georgina Morton , Michael Henderson , Brian W Bigger , Simon A Jones

Réseau de co-auteurs

Simon A Jones 4 collaborations

Brian W Bigger 3 collaborations

None None 2 collaborations

Arunabha Ghosh 2 collaborations

Claire O'Leary 2 collaborations

Jean Mercer 2 collaborations

A Broomfield 2 collaborations

P Hensman 2 collaborations

K Tylee 2 collaborations

S A Jones 2 collaborations

Tim M Reynolds 1 collaboration

Kathryn Booth 1 collaboration

Anthony S Wierzbicki 1 collaboration

Aiyin Liao 1 collaboration

Anu Goenka 1 collaboration

Rebecca Holley 1 collaboration

Stewart Rust 1 collaboration

Kia Langford-Smith 1 collaboration

Daniel Weisberg 1 collaboration

Maria Canal 1 collaboration

Catherine Breen 1 collaboration

Michelle Hepburn 1 collaboration

Frédéric M Vaz 1 collaboration

Andy Vail 1 collaboration

Frits Wijburg 1 collaboration

Helen Parker 1 collaboration

J Ed Wraith 1 collaboration

Rachel Edmiston 1 collaboration

Stuart Wilkinson 1 collaboration

Simon Jones 1 collaboration

Alexander Broomfield 1 collaboration

Iain A Bruce 1 collaboration

Giorgia Di Lorenzo 1 collaboration

Lena M Westermann 1 collaboration

Timur A Yorgan 1 collaboration

Julian Stürznickel 1 collaboration

Nataniel F Ludwig 1 collaboration

Luise S Ammer 1 collaboration

Anke Baranowsky 1 collaboration

Shiva Ahmadi 1 collaboration

Elham Pourbarkhordariesfandabadi 1 collaboration

Sandra R Breyer 1 collaboration

Tim N Board 1 collaboration

Anne Foster 1 collaboration

Renata Voltolini Velho 1 collaboration

Michaela Schweizer 1 collaboration

Thomas Renné 1 collaboration

Thomas Braulke 1 collaboration

Dévora N Randon 1 collaboration

Fernanda Sperb-Ludwig 1 collaboration

Louise Lapagesse de Camargo Pinto 1 collaboration

Carolina Araujo Moreno 1 collaboration

Denise P Cavalcanti 1 collaboration

Michael Amling 1 collaboration

Kerstin Kutsche 1 collaboration

Dominic Winter 1 collaboration

Nicole M Muschol 1 collaboration

Ida V D Schwartz 1 collaboration

Tim Rolvien 1 collaboration

Tatyana Danyukova 1 collaboration

Thorsten Schinke 1 collaboration

Sandra Pohl 1 collaboration

J Sims 1 collaboration

J Mercer 1 collaboration

A Ghosh 1 collaboration

K M Stepien 1 collaboration

A Oldham 1 collaboration

N Prathivadi Bhayankaram 1 collaboration

R Wynn 1 collaboration

N B Wright 1 collaboration

S Wilkinson 1 collaboration

Deborah Marsden 1 collaboration

Tony Koutsoukos 1 collaboration

Jennifer Sniadecki 1 collaboration

Sarah Phillippo 1 collaboration

Emil Kakkis 1 collaboration

Amir Jahic 1 collaboration

Sven Günther 1 collaboration

Nicole Muschol 1 collaboration

Barbro Fossøy Stadheim 1 collaboration

Øivind Braaten 1 collaboration

Hanne Kjensli Hyldebrandt 1 collaboration

Gé-Ann Kuiper 1 collaboration

Frits A Wijburg 1 collaboration

Christian Beetz 1 collaboration

J Davison 1 collaboration

J Roberts 1 collaboration

C Stewart 1 collaboration

C Beesley 1 collaboration

S Rust 1 collaboration

B Schwahn 1 collaboration

E Jameson 1 collaboration

S Vijay 1 collaboration

S Santra 1 collaboration

S Sreekantam 1 collaboration

U Ramaswami 1 collaboration

A Chakrapani 1 collaboration

J Raiman 1 collaboration

M A Cleary 1 collaboration

Teresa H Y Wu 1 collaboration

Heather A Brown 1 collaboration

Heather J Church 1 collaboration

Christopher J Kershaw 1 collaboration

Rebekah Hutton 1 collaboration

Christine Egerton 1 collaboration

James Cooper 1 collaboration

Rebecca N Cohen 1 collaboration

David Gokhale 1 collaboration

Dipak Ram 1 collaboration

Georgina Morton 1 collaboration

Michael Henderson 1 collaboration