research Long-lived proteins and DNA as candidate predictive biomarkers for tissue associated diseases
Long-lived proteins may predict age-related diseases.
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research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research GASTROINTESTINAL TUBERCULOSIS PRESENTING AS INTESTINAL OBSTRUCTION IN A 16-YEAR-OLD FILIPINO WITH PEDIATRIC SYSTEMIC LUPUS ERYTHEMATOSUS
Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.
research Lithium: one drug, five complications
Lithium poisoning can cause severe health complications and requires careful monitoring.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases
Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
research Glycolytic Dysfunction in Granulosa Cells and Its Contribution to Metabolic Dysfunction in Polycystic Ovary Syndrome
Targeting glycolysis may help treat PCOS by improving insulin sensitivity and ovarian function.
research 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research G588(P) Transient renal and hepatic dysfunction in severe profound hypothyroidism
Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Very-long-chain Acyl-CoA Synthetases
Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
research Advances in Lipid Nanoparticle‐Based Disease Treatment
Lipid nanoparticles improve treatment delivery and are key to future therapies, but challenges in manufacturing and safety remain.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research C001 Lymphoproliferative disorders
Skin lymphoproliferative disorders are hard to diagnose and often linked to systemic diseases, but most have a good prognosis with accurate diagnosis.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Central Diabetes Insipidus and Hypothalamic Type of Hypopituitarism Associated with Atypical Location of Rathke's Cleft Cyst
A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients
Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Mechanisms of autophagy and their implications in dermatological disorders
Targeting autophagy can help treat skin disorders like vitiligo and atopic dermatitis.