A5019712693- Lysosomal Storage Disorders Research
- Autoimmune and Inflammatory Disorders Research
- Cytomegalovirus and herpesvirus research
- Genetic Syndromes and Imprinting
- Cystic Fibrosis Research Advances
- Genetic and Kidney Cyst Diseases
- Family and Disability Support Research
- Renal and related cancers
- Diabetes Treatment and Management
- Folate and B Vitamins Research
- Child Nutrition and Feeding Issues
- Kawasaki Disease and Coronary Complications
- Intensive Care Unit Cognitive Disorders
- Cardiovascular Issues in Pregnancy
- Digital Mental Health Interventions
- Neurogenetic and Muscular Disorders Research
- Renal Diseases and Glomerulopathies
- Respiratory viral infections research
- Coronary Artery Anomalies
- Cerebral Palsy and Movement Disorders
- Long-Term Effects of COVID-19
- Acute Lymphoblastic Leukemia research
- Pineapple and bromelain studies
- COVID-19 Clinical Research Studies
- Pancreatic function and diabetes
University Hospitals Birmingham NHS Foundation Trust
2018-2023
University of Oxford
2023
Queen Elizabeth Hospital Birmingham
2018-2021
NIHR Surgical Reconstruction and Microbiology Research Centre
2016-2019
Queen Elizabeth Hospital
2018
Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers good care. There are no published national or international consensus guidelines for management of patients with ASMD. For these reasons, we have developed clinical that defines standard care ASMD patients.The information contained was obtained through systematic literature review experiences authors...
The medium- and long-term effects of severe acute respiratory syndrome coronavirus 2 infection on survivors are unknown. In the current study, we assessed medium-term disease 2019 (COVID-19) disease.
Abstract Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings the natural history disease. Here we report patient from International Registry (INPDR). Method INPDR a web-based, patient-led independent registry for prospective and retrospective patients. Baseline patients enrolled into September 2014 to December...
Abstract Background and Aims Alström syndrome ( AS ) is a recessive monogenic characterized by obesity, extreme insulin resistance multi‐organ fibrosis. Despite phenotypically being high risk of non‐alcoholic fatty liver disease NAFLD ), there lack data on the extent fibrosis in its close links to adipose patients with . Our aim was characterize hepatic phenotype Methods Observational cohort study comprehensive assessment metabolic including elastography (Fibroscan ® serum Enhanced Liver...
Alström syndrome (ALMS) is a very rare autosomal recessive monogenic disorder caused by mutation in the ALMS1 gene and characterised childhood onset obesity, dyslipidaemia, advanced non-alcoholic fatty liver disease, diabetes extreme insulin resistance. There evidence of multi-organ fibrosis ALMS severity disease often leads to organ failure with associated morbidities, resulting reduced life expectancy. are no specific treatments for this current management consists only symptomatic...
Alström syndrome (AS) is a rare autosomal recessive ciliopathy with wide spectrum of clinical features, including cone-rod retinal dystrophy, neuronal deafness, severe insulin resistance and major organ failure. The characteristics renal disease in the have not been systematically described. aim this study to define onset progression AS.Prospective observational cohort study.Thirty-two adult subjects from national specialist clinic UK 86 an international AS registry were studied.First,...
Abstract Background: Acid sphingomyelinase deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers good care. There no published national or international guideline for management of patients with ASMD. For these reasons, we at INPDR have developed clinical that define standard care ASMD Methods: The information contained guidelines was obtained through systematic review the literature...
Abstract Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings the natural history disease. Here we report patient from International Registry (INPDR). Method INPDR a web-based, patient-led independent registry for prospective and retrospective patients. Baseline patients enrolled into September 2014 to December...