Resources

Family tree and the role of the genetic counsellors in metabolic MDT clinics by Dr Karolina Stepien

Focus on Fabry - Expert and Patient Meeting 2019 Family tree and the role of the genetic counsellors in metabolic MDT clinics by Dr...

Gene therapy for MPS? by Derralynn A Hughes

Focus on Fabry - Expert and Patient Meeting 2019 Gene therapy for MPS? by Derralynn A Hughes Lysosomal Storage Disorders Unit, Royal Free...

Gene Therapy for MPS by Derralynn Hughes

MPS National Conference 2019 Gene Therapy for MPS by Derralynn Hughes Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation...

How are drugs approved and audited? by Tom Kenny

Focus on Fabry - Expert and Patient Meeting 2019 How are drugs approved and audited? by Tom Kenny Role of CRG, NHSE and NICE

How the Fabry app can help clinicians to better understand pain in Fabry disease by Uma Ramaswami

Focus on Fabry - Expert and Patient Meeting 2019 How the Fabry pain app can help clinicians to better understand pain in Fabry disease by...

Moving to Semi or Full independence for ERT infusions by Catherine Stewart

MPS National Conference 2019 Moving to Semi or Full independence for ERT infusions by Catherine Stewart Clinical Nurse Specialist at...

Mutations and predictions of disease severity by Derralynn Hughes

Focus on Fabry - Expert and Patient Meeting 2019 Mutations and predictions of disease severity by Derralynn Hughes Honorary Haematologist...

New therapies for Fabry disease by Derralynn Hughes

Focus on Fabry - Expert and Patient Meeting 2019 New therapies for Fabry disease by Derralynn A Hughes Lysosomal Storage Disorders Unit,...

Portacaths - To Port or Not to Port by Dr Fiona Stewart

MPS National Conference 2019 Portacaths - To Port or Not to Port by Dr Fiona Stewart Consultant in Medical Genetics, Clinical Genetics at...

Respiratory complications and interventions/ventilation/tracheostomy in adult MPS by Mr C. Gadepalli

MPS National Conference 2019 Respiratory complications and interventions/ ventilation / tracheostomy in adult MPS by Mr C. Gadepalli MD,...

Smartphone app to monitor symptoms in Fabry patients by Uma Ramaswami

MPS National Conference 2019 Smartphone app to monitor symptoms in Fabry patientsby Uma Ramaswami LSDU, Information Governance, Royal...

Transferring from paediatrics to adult services nurses prospective by Jane Roberts and Stuart Hulme

MPS National Conference 2019 Transferring from paediatrics to adult services nurses prospective by Jane Roberts MPS II /VIand Stuart...

Update on the Heart: Cardiac Involvement in Anderson-Fabry Diseas by Dr Ravi Vijapurapu

Focus on Fabry - Expert and Patient Meeting 2019 Update on the Heart: Cardiac Involvement in Anderson-Fabry Disease by Dr Ravi Vijapurapu...

Update on the Kidneys by Dr Shabbir Moochhala

Focus on Fabry - Expert and Patient Meeting 2019 Update on the Kidneys by Dr Shabbir Moochhala Consultant Nephrologist at Royal Free...

Update on treatment by Tarekegn Hiwot

Focus on Fabry - Expert and Patient Meeting 2019 Update on treatment by Tarekegn Hiwot Consultant in Inherited Metabolic Disorders,...

Variable Presentations in Female Fabry Patients by Atul Mehta

Focus on Fabry - Expert and Patient Meeting 2019 Variable Presentations in Female Fabry Patients by Atul Mehta Consultant Haematologist...

Gene therapy; where are we up to, what's currently happening

MPS National Conference 2019 Gene Therapy; where are we up to, what's currently happening by Julian Raiman Dr Julian Raiman at Birmingham...

Managing difficult behaviour

MPS National Conference 2019 Managing difficult behaviour by Daniella Vandepeer Mum to Caleb MPS II Hunter Syndrome

Radiological Abnormalities in the skull and spine for MPS I

MPS National Conference 2019 Radiological Abnormalities in the skull and spine for MPS I by Esmee Oussoren Metabolic Paediarician, Center...

Understanding the changes in the Brain

MPS National Conference 2019 Understanding the changes in the Brain by Annapurna Sudarsanam Paediatric Neurologist at Birmingham...

Focus on Fabry 2019 video

All the highlights from the weekend of our first ever Focus on Fabry expert and patient meeting held on 27-29 September 2019.

Fabry Findings - Issue No. 1 - Summer 2019

Findings from research conducted with the Fabry community by Rare Disease Research Partners on behalf of the Fabry International Network.