- Patient Perspectives on Living with an Ultra|Rare Mitochondrial ...🔍
- Navigating Life With Primary Mitochondrial Myopathies🔍
- Pagliarini Lab Members Attend Mitochondrial Disease Walk🔍
- Global Research Study to Understand Impact of TK2d on Patients ...🔍
- International MITO Patients🔍
- Rare Mitochondrial Disorders Service🔍
- Mitochondrial disease patients face difficult road to diagnosis🔍
- A conceptual disease model for quality of life in mitochondrial disease🔍
Patient Perspectives on Living with an Ultra|Rare Mitochondrial ...
Patient Perspectives on Living with an Ultra-Rare Mitochondrial ...
Patient voices and caregiver perspectives provided by individuals and families with TK2d offer invaluable insights into the day-to-day challenges and related ...
Navigating Life With Primary Mitochondrial Myopathies
Keywords: primary mitochondrial myopathies, primary mitochondrial disease, mitochondrial disorders, patient perspectives, patient-centeredness, practice ...
Navigating Life With Primary Mitochondrial Myopathies - PubMed
... rare diseases. Keywords: mitochondrial disorders; patient perspectives; patient-centeredness; practice management; primary mitochondrial disease; primary ...
Pagliarini Lab Members Attend Mitochondrial Disease Walk, Interact ...
Students interacting with patients at the Energy for Life walkathon organized by the United Mitochondrial Disease Foundation. Photo courtesy ...
Global Research Study to Understand Impact of TK2d on Patients ...
TK2d (thymidine kinase 2 deficiency) is a rare genetic mitochondrial disease that can have a serious impact on a person's health and quality of life. TK2d ...
International MITO Patients: IMP Homepage
Mitochondrial diseases (mito) are a highly complex set of rare genetic disorders. ... Seeking the patient perspective: Living with LHON. Hello there The results ...
Rare Mitochondrial Disorders Service, Patient ... - YouTube
UCL London Mitochondrial Centre: Primary mitochondrial diseases are genetic disorders that cause dysfunction of mitochondria, ...
Mitochondrial disease patients face difficult road to diagnosis
... mitochondrial diseases, a group of rare, debilitating genetic disorders ... patient perspective, which he wove into the survey design. In ...
A conceptual disease model for quality of life in mitochondrial disease
Previous studies in patients with a mitochondrial disease (MD) highlight the high prevalence of cognitive impairments, fatigue, depression, ...
Patient-populated registries are an important component of rare disease ... characterize mitochondrial disease patients from the patient perspective.
Patient care standards for primary mitochondrial disease - Nature
This method is increasingly used to develop consensus-based guidelines in medicine and rare diseases. Expert panelists review and summarize the ...
The impact of TK2 deficiency syndrome and its treatment by ...
Thymidine kinase 2 deficiency (TK2d) is an ultra-rare genetic disorder that causes mitochondrial dysfunction and leads to inadequate energy production in cells.
Expert Series: Ultra-Rare Mitochondrial Diseases - MitoAction
Expert Series: Ultra-Rare Mitochondrial Diseases: Development Challenges and Opportunities. Print Friendly, PDF & Email. Join CEO of Stealth Biotherapeutics ...
NORD Publishes Physician Guide to Mitochondrial Myopathies
living rare living stronger patient & family forum, Living Rare ... Patient Perspectives, Patient Powered, Patient Protections, patient ...
Mitochondrial disease awareness week - Rare Revolution Magazine
As patients celebrate the significant progress in mitochondrial science, the community waits for a cure—or even a treatment. By Andy Dearth.
Current and Emerging Clinical Treatment in Mitochondrial Disease
... patient's quality of life. This highlights the importance of co-designing clinical trials, based on what matters to patients. Any future ...
North American Mitochondrial Disease Consortium: Home
The devastating impact of COVID-19 on the general population is well-documented—but less is known about the millions of people living with rare diseases. Read ...
What is Mitochondrial Disease - Mito Foundation
There are many different types of mito, with over 350 genetic causes identified so far. All types are considered rare, but some are more common ...
General Advice - Rare Mitochondrial Disorders Service
Blood and urine samples. Blood samples are very useful to investigate whether or not patients have a high level of lactate (a bi-product of faulty mitochondria) ...
Demographic characteristics, diagnostic challenges, treatment ...
Several studies have highlighted the adverse effects of mitochondrial disease on patients' and families' quality of life [19], the considerable ...