Results 31 to 40 of about 117,949 (253)
Defining an epidemic:The body mass index in British and American obesity research 1960-2000 [PDF]
Between the 1970s and the mid‐1990s the body mass index (BMI) became the standard means of assessing obesity both in populations and in individuals, replacing previously diverse and contested definitions of excess body weight.
Amsterdamska +70 more
core +1 more source
Disease and psychological status in ankylosing spondylitis. [PDF]
Objectives. Psychological factors may be important in the assessment and management of ankylosing spondylitis (AS). Our primary objective was to describe associations between disease and psychological status in AS, using AS-specific assessment tools and ...
Goodacre, J. A. +5 more
core +1 more source
Leigh syndrome is a progressive neurodegenerative disease due to defects in the mitochondrial genes, including mitochondrial DNA cytochrome b (MTCYB) mutation, that typically begins in infancy or early childhood.
Daryeon Son +3 more
doaj +1 more source
Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
Background: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system.
Sunho Lee +3 more
doaj +1 more source
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi +3 more
doaj +1 more source
Leigh Syndrome: A Tale of Two Genomes
Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity.
Ajibola B. Bakare +4 more
doaj +1 more source
Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature
Isoleucyl‐tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine‐tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease.
Jariya Upadia +5 more
doaj +1 more source
Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams +154 more
core +2 more sources
Leigh syndrome: A rare mitochondrial disorder
Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted.
Gopen Kumar Kundu +3 more
doaj +1 more source
Leigh syndrome global patient registry: uniting patients and researchers worldwide
Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA.
Sophia Zilber +10 more
doaj +1 more source

