Brain Sciences, 2022 Mutations of the leucine-rich repeat kinase 2 (LRRK2) gene are associated with pronounced sleep disorders or cognitive dysfunction in neurodegenerative diseases.
Xiaojuan Cheng +9 more
doaj +1 more source
Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]
, 2013 Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed +58 more
core +3 more sources
Serum vitamin D in patients with chronic obstructive lung disease does not correlate with mortality--results from a 10-year prospective cohort study. [PDF]
PLoS ONE, 2013 Recent studies have found vitamin D (25-OHD) deficiency and insufficiency to be common among patients with COPD. Serum level of 25-OHD seems to correlate to pulmonary function, COPD disease staging, and increased susceptibility to respiratory infections.
Dennis Back Holmgaard +6 more
doaj +1 more source
Potentially Diagnostic Electron Paramagnetic Resonance Spectra Elucidate the Underlying Mechanism of Mitochondrial Dysfunction in the Deoxyguanosine Kinase Deficient Rat Model of a Genetic Mitochondrial DNA Depletion Syndrome [PDF]
, 2016 A novel rat model for a well-characterized human mitochondrial disease, mitochondrial DNA depletion syndrome with associated deoxyguanosine kinase (DGUOK) deficiency, is described.
Bennett, Brian +8 more
core +2 more sources
Transcriptional regulation of copper metabolism genes in the liver of fetal and neonatal control and iron-deficient rats [PDF]
, 2014 Acknowledgments The authors’ work is supported by Scottish Government (Rural and Environmental Scientific and Analytical Services). We are grateful to Ms Val Stevens for analytical and technical assistance and to the Biological Resource Facility staff ...
Hayes, Helen +3 more
core +2 more sources
Glucose-6-Phosphate Dehydrogenase Deficiency and Physical and Mental Health until Adolescence. [PDF]
PLoS ONE, 2016 To examine the association of glucose-6-phosphate dehydrogenase (G6PD) deficiency with adolescent physical and mental health, as effects of G6PD deficiency on health are rarely reported.In a population-representative Chinese birth cohort: "Children of ...
Man Ki Kwok +2 more
doaj +1 more source
Liver Transplantation for Advanced Liver Disease with Alpha-1antitrypsin Deficiency [PDF]
, 1980 ALPHA-1-antitrypsin deficiency associated with chronic obstructive airway disease was recognized in 1963 by Laurell and Ericksson.1 In 1969, Sharp2 described the first cases of alpha-1-antitrypsin-deficiency disease in children with cirrhosis. Since then,
Allan G. Redeker +26 more
core +1 more source
PLoS ONE, 2012 BackgroundFabry disease (FD) is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA) resulting in the accumulation of globotriaosylsphingosine (Gb3) in a variety of tissues.
Mehdi Namdar +8 more
doaj +1 more source
Nutritional status of young children with inherited blood disorders in western Kenya. [PDF]
, 2014 To determine the association between a range of inherited blood disorders and indicators of poor nutrition, we analyzed data from a population-based, cross-sectional survey of 882 children 6–35 months of age in western Kenya.
Ruth, LJ +4 more
core +1 more source
Teriparatide (human PTH1–34) compensates for impaired fracture healing in COX-2 deficient mice [PDF]
Bone, 2018 Genetic ablation of cyclooxygenase-2 (COX-2) in mice is known to impair fracture healing. To determine if teriparatide (human PTH1-34) can promote healing of Cox-2-deficient fractures, we performed detailed in vivo analyses using a murine stabilized tibia fracture model.
Kiminori Yukata +10 more
openaire +2 more sources