Latest Articles for Genetic Disorders

A look into the complexities of GM1 gangliosidosis type II.

Research on ECHS1 deficiency unveils potential causes and treatment avenues.

A look into how Fragile X Syndrome affects auditory processing and daily life.

This article explores the significance of aortic stiffness in Marfan Syndrome patients.

A look at the challenges faced by children with 22q11.2 deletion syndrome.

Research improves assessment methods for facioscapulohumeral dystrophy using ultrasound.

This article delves into the causes and effects of heterotopic ossifications.

A look at genetic factors and health outcomes of DCM in young patients.

Exploring how ATM protein affects DNA damage and neuron health.

Research reveals changes in gut bacteria with new CF treatments.

Learn about the effects and research on Friedreich's Ataxia.

Learn about cystinosis, its effects, and current research on treatments.

Research highlights new blood test methods for diagnosing tumors in NF1 patients.

Research sheds light on pain mechanisms in Fibrous Dysplasia using mouse models.

New delivery vehicles enhance CRISPR tool effectiveness in gene editing.

Gene therapy shows potential for treating lipodystrophy and its metabolic issues.

This study reveals the structure and function of human PCC and MCC enzymes.

Research unveils a method to analyze DNA replication with improved accuracy.

Research reveals new insights into ADPKD using automatic cyst segmentation techniques.

Study shows combined treatment improves liver enzyme activity but not lung health.

Study reveals mitral valve issues increase heart risk, especially in genetic conditions.

Examining parents' acceptance of sickle cell disease testing for newborns in Homa Bay County.

Study develops tool to measure CADASIL impact on patients' lives.

An overview of X-ALD, a rare genetic disorder affecting the nervous system.

New approaches in patient symptom reporting may improve diagnosis accuracy.

An overview of spinal muscular atrophy and its impact on muscle function.

Learn about Acute Lymphoblastic Leukemia, its causes, and treatment options.

Research reveals miRNA potential in diagnosing hypophosphatasia.

Study reveals connections between health issues and primary immunodeficiencies.

Researchers focus on improving vision retention in retinitis pigmentosa through metabolic health.

Study finds GXR may help reduce aggression and impulsivity in Prader-Willi Syndrome.

A look into the genetic causes and mechanisms behind Peters anomaly in eye development.

Research highlights the role of CRB2 mutations in FSGS and podocyte health.

Study reveals brain structure alterations in GM1 gangliosidosis using advanced imaging techniques.

Study examines corticosteroid treatment effects on anxiety and behavior in DMD mice.

New research on zebrafish models sheds light on Sanfilippo syndrome.

Research on gene therapy offers hope for those affected by Christianson syndrome.

Study reveals common alpha-thalassemia mutations in microcytic anemia patients.

An overview of Lowe syndrome, its effects, and ongoing research.

An overview of HGPS and its impact on children.