Results 121 to 130 of about 347,356 (359)
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]
, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe +12 more
core +2 more sources
Medicinal Research Reviews, EarlyView.ABSTRACT Autophagy is a highly conserved intracellular process involved in maintaining homeostasis and in the degradation of damaged organelles and external pathogens. Nature provides complex and varied reservoirs of scaffolds and chemical entities that may have a pivotal role in the search for new therapeutic leads.
Ilaria Cursaro +5 more
wiley +1 more source
Tuberous Sclerosis: An uncommon cause of hyperprolactinemia
Indian Journal of Endocrinology and Metabolism, 2012 Tuberous Sclerosis is a multi system genetic disorder affecting skin, central nervous system,kidney,heart and lungs. We present a case report of a 26 year old female with tuberous sclerosis who presented with galactorrhea and menstrual irregularities due
Sunil Kumar Kota +3 more
doaj +1 more source
The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. [PDF]
, 2018 Background: The severity of Tuberous Sclerosis Complex (TSC) can vary among affected individuals. Complications of TSC can be life threatening, with significant impact on patients' quality of life.
Amin, S +11 more
core +3 more sources
Effect of Natural Polyphenols on Breast Cancer Chemoprevention and Treatment
Molecular Nutrition &Food Research, EarlyView.Effect of Natural Polyphenols on Breast Cancer proliferation and progression. ABSTRACT Breast cancer is the most common type of malignancy among women worldwide. Significant achievements have been made in diagnostic tools and cancer treatments in the past decade; however, the complexity and heterogeneity of certain breast cancer subtypes often lead to ...
Marzia Sichetti +4 more
wiley +1 more source
Frontiers in Cell and Developmental BiologyBackgroundTuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%–90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants.
Jing Duan +10 more
doaj +1 more source
Challenges in the management of a case of tuberous sclerosis
Industrial Psychiatry Journal, 2012 Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina.
Anubhav Rathi +2 more
doaj +1 more source
PLoS ONE, 2017 Objectives We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
J. Bissler +13 more
semanticscholar +1 more source
Tuberous sclerosis with rhabdomyoma
Indian Journal of Human Genetics, 2013 Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis ...
Vardhelli Venkateshwarlu +3 more
openaire +4 more sources
Cannabinoids for Medical Purposes in Children: A Living Systematic Review
Acta Paediatrica, EarlyView.ABSTRACT Aim We developed a living systematic review (LSR) that will continuously map the safety and reported benefit data related to cannabinoid use for medical purposes in children. Methods MEDLINE, Embase, PsycInfo, and the Cochrane Library were searched from inception to April 2023.
Manik Chhabra +7 more
wiley +1 more source