Austin, P. Kishnani, Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing, Orphanet J. Rare Dis. 11 (2016) 8.Levesque S, Auray-Blais C, Gravel E, et al. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing...
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are ...
Huntingon's disease is used as an example to discuss genetic counselling for autosomal dominant late-onset diseases before and after the availability of genetic testing. In the context of...doi:10.1007/978-90-481-3919-4_36Gerry Evers-Kiebooms...
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are ...
SPR analysis confirmed binding-affinity against P-5 and P-13. Also, a significant correlation was observed between inflammatory markers and P-5. This study demonstrates that gut health is important not only for intestinal diseases but also for several late onset diseases, like, diabetes....
The patients were identified through the European Network and Registry for Homocystinuria and Methylation Defects and the Adult group of the French Society for Inherited Metabolic Diseases; data were retrospectively colleted. To identify juvenile to adult-onset forms of the disease, we included ...
Several neuromuscular disorders (NMDs), e.g. motoneuron-diseases (MNDs) such as amyotrophic lateral sclerosis (ALS), inflammatory myopathies such as inclusion body myositis (IBM) or inherited muscular diseases such as myotonic dystrophy type 2 (DM2) can start with a late-onset and present with...
may be associated with classic later-onset Parkinson's disease, including LRRK2, which is currently the most common cause of autosomal dominantly inherited Parkinson's disease, or with early-onset parkinsonism, typically found in the autosomal recessive forms associated with parkin, DJ-1, and PINK...
cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evaluate long-term outcomes
However, in the 1960s and 1970s, studies showed that the neuropathology underlying early-onset and senile dementia was the same; as such, both clinical variants are produced by the same disease, AD.5, 6 From that time on, once the clinical criteria for an AD diagnosis had been established...