research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
Search
for
Sort by
Research
360-390 / 1000+ results 
research Roles of Steroid Sulfatase in Brain and Other Tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research The Rotterdam Study: 2012 Objectives and Design Update
The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.
research Acrodermatitis Enteropathica-Like Skin Eruption With Neonatal Seizures in a Child With Biotinidase Deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research A Rare Case of Biotinidase Deficiency
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research PKC Downregulation Upon Rapamycin Treatment Attenuates Mitochondrial Disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research Phenotypic-Genotypic Expansion of Plectinopathy in a Patient With Muscular Dystrophy and Immune-Mediated Myasthenia Gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Female Sexual Dysfunction: Prevalence, Causes, and Treatments
Many women experience sexual dysfunction, but few seek help, and better treatment and medical training are needed.
research Hair That Is Difficult to Manage in a Hispanic Girl
A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
research A 30-Year-Old Man with Recurrent Scaling and Itching of the Scalp
A man has a common skin condition called seborrheic dermatitis, treated with special shampoos and sometimes medication.
research Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Protein Kinase C Is a Key Target for Attenuation of Leigh Syndrome by Rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Finasteride Side Effects and Post-Finasteride Syndrome in Male Androgenic Alopecia
Finasteride can cause serious physical, mental, and sexual side effects, even after stopping the treatment.
research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research A Woman With Headaches And Blurred Vision
The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Symptom Management in Inflammatory Bowel Disease
Effective symptom management in IBD improves quality of life and prevents complications.
research Neuropsychiatric Lupus: Two Sides of the Same Coin
A thorough, team-based approach and clear communication improve outcomes in complex neuropsychiatric lupus cases.
research Advances in Knowledge of Androgens: How Intentional and Accidental Neurosteroid Changes Inform Us of Their Action and Role
Finasteride can have lasting negative effects on brain function and behavior by disrupting neurosteroid production.
research Adverse Effects and Drug Interactions of Biologic Agents
Biologic agents can be effective for rheumatic diseases but have risks like infections and require careful monitoring and patient information.
research Taurine, a Non-Proteinous Essential Amino Acid for Human Body Systems: An Overview
Taurine is important for many body functions and its deficiency can cause health problems.
research The Rotterdam Study: 2016 Objectives and Design Update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
research Roles of Type 10 17beta-Hydroxysteroid Dehydrogenase in Intracrinology and Metabolism of Isoleucine and Fatty Acids
This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Helicobacter Pylori Infection and Skin Disorders
Some skin disorders might be linked to H. pylori infection, but more research is needed to confirm this.
research Thyroid Disorder Among Lean and Obese Polycystic Ovary Syndrome Phenotypes
Women with PCOS, especially if they are obese, are more likely to have an underactive thyroid than women without PCOS.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.