A5062312559- Metabolism and Genetic Disorders
- Muscle metabolism and nutrition
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Amino Acid Enzymes and Metabolism
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- BRCA gene mutations in cancer
- Adolescent and Pediatric Healthcare
- ATP Synthase and ATPases Research
- Lysosomal Storage Disorders Research
- Biological Research and Disease Studies
- Vitamin K Research Studies
- Diet and metabolism studies
- Carbohydrate Chemistry and Synthesis
- Education Pedagogy and Practices
- High Altitude and Hypoxia
- Algal biology and biofuel production
- Polyamine Metabolism and Applications
- Bipolar Disorder and Treatment
- Cardiovascular and exercise physiology
Centogene (Germany)
2022-2025
National Institute of Health Dr. Ricardo Jorge
2013-2017
Ricardo (United Kingdom)
2015
Instituto Nacional de Saúde
2015
Centro de Genética Clínica
2007-2012
Amsterdam UMC Location Vrije Universiteit Amsterdam
2004-2010
University Medical Center
2004
University Hospital and Clinics
2004
Universidade do Porto
2000
Abstract The guanidino compound creatine has been shown to occur throughout the brain affecting energy metabolism and mental performance act at central GABA A receptors as a partial agonist. Therefore, we examined possibility that may in fact represent neuromodulator is released an action‐potential dependent manner. To end, studied uptake of [ 3 H]creatine its electrically evoked release from superfused rat slices well endogenously synthesized creatine. was accumulated neocortex Na +...
Abstract To present our experience using a multiomic approach, which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders (IMDs). A cohort of 3720 from 62 countries was tested panel including 206 genes single nucleotide copy number variant (SNV/CNV) detection, followed by semi-automatic filtering reflex (25 assays). In 1389 (37%), diagnosis achieved. Within this cohort, the highest yield obtained Asia (57.5%, mainly...
Abstract Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal recessive disorder, characterized by multitude of neurovisceral clinical manifestations fatal outcome with no effective treatment to date. Aiming gain insights into the genetic aspects disease, clinical, genetic, biomarker PPCS data from 602 patients referred 47 countries diagnosed NPC1 in our laboratory were analyzed. Patients’ dissected using Human Phenotype Ontology (HPO) terms, genotype–phenotype...
Osteogenesis imperfecta (OI) is a genetic disease characterized by bone deformities and fractures.Most cases are caused autosomal dominant mutations in the type I collagen genes COL1A1 COL1A2; however, an increasing number of recessive other have been reported.The LEPRE1, CRTAP, PPIB encode proteins that form P3H1/CRTAP/CypB complex, which responsible for posttranslational modifications collagen.In general, these lead to severe lethal phenotypes OI.Here, we describe sixteen variations...
Cerebral creatine deficiency syndromes (CCDS) are responsible for a considerable proportion of the population affected with mental retardation. CCDS caused by either an inborn error proteins involved in biosynthesis or transporter. Besides retardation, clinical characteristics speech and language delay, epilepsy features autism. can be diagnosed proton magnetic resonance spectroscopy brain and/or biochemical molecular analysis. Treatment defects has yielded favorable outcomes, while...
Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity.We performed a retrospective analysis of the clinical, histological, biochemical, features 65 patients with molecular diagnoses mitochondrial disorders.The most common diagnosis was single large-scale DNA (mtDNA) deletion (41.5%), frequent clinical phenotype chronic progressive external ophthalmoplegia (CPEO). It occurred in 41.5% all patients, primarily those mtDNA deletions. Histological signs dysfunction were...
Carriers of cytogenetically similar, apparently balanced familial chromosome translocations not always exhibit the putative translocation-associated disease phenotype. Additional genetic defects, such as genomic imbalance at breakpoint regions or elsewhere in genome, have been reported most plausible explanation. By means comprehensive molecular and functional analyses, additional to careful dissection t(3;14)(q26.33;q12) breakpoints, we unveil a novel X-linked PGK1 mutation examine...