Abstract: Provided are methods for treating GLUT1 and related brain energy deficiencies comprising administering odd-carbon fatty acid sources, e.g., C5 or C7 fatty acid sources, and related compositions.

Abstract: Provided are methods for treating GLUT1 and related brain energy deficiencies comprising administering odd-carbon fatty acid sources, e.g., C5 or C7 fatty acid sources, and related compositions.

Abstract: The present invention describes a method for determination of urinary globotriaosylceramide (Gb3) levels in non-Fabry disease cardiac patients. Determination of Gb3 levels provides a screening method for determining cardiac risk and may offer an alternative therapeutic option for cardiac disease management or cardiac disease risk mitigation by lowering Gb3 levels by the use of pharmacological chaperones or other agents.

Abstract: Provided are methods for treating GLUT1 and related brain energy deficiencies comprising administering odd-carbon fatty acid sources, e.g., C5 or C7 fatty acid sources, and related compositions.

Abstract: Provided are methods for treating GLUT1 and related brain energy deficiencies comprising administering odd-carbon fatty acid sources, e.g., C5 or C7 fatty acid sources, and related compositions.

Abstract: The present invention describes a method for determination of urinary globotriaosylceramide (Gb3) levels in non-Fabry disease cardiac patients. Determination of Gb3 levels provides a screening method for determining cardiac risk and may offer an alternative therapeutic option for cardiac disease management or cardiac disease risk mitigation by lowering Gb3 levels by the use of pharmacological chaperones or other agents.

Abstract: A composition and method for generating patient- or person-specific proliferative and substantially pure cardiac myocyte cell lines from pluripotent stem cells (iPSCs) is described herein. The patient-specific cardiac myocyte cell lines of the present invention find applications in research, drug screening and autologous cell-based therapy. The method of the present invention is simple and reproducible and generates cardiac myocyte cells having high purities and proliferating capacities.

Abstract: The present invention describes a method for determination of urinary globotriaosylceramide (Gb3) levels in non-Fabry disease cardiac patients. Determination of Gb3 levels provides a screening method for determining cardiac risk and may offer an alternative therapeutic option for cardiac disease management or cardiac disease risk mitigation by lowering Gb3 levels by the use of pharmacological chaperones or other agents.

Abstract: Provided are methods for treating GLUT1 and related brain energy deficiencies comprising administering odd-carbon fatty acid sources, e.g., C5 or C7 fatty acid sources, and related compositions.

Abstract: Blood and tissue markers of the metabolic status, risk of health complications in Fabry disease patients and as a biomarker to follow the efficacy of treatment in animal models and patients with Fabry disease comprising tetrahydrobiopterin (BH4), precursors and metabolites of BH4, and other related co-factors is disclosed herein. The present invention further describes the use of BH4 therapy as a treatment option for Fabry disease to prevent, slow or reverses vascular cardiac and renal manifestations of Fabry disease.

Abstract: A composition and method for generating patient- or person-specific proliferative and substantially pure cardiac myocyte cell lines from pluripotent stem cells (iPSCs) is described herein. The patient-specific cardiac myocyte cell lines of the present invention find applications in research, drug screening and autologous cell-based therapy. The method of the present invention is simple and reproducible and generates cardiac myocyte cells having high purities and proliferating capacities.

Abstract: Compositions and methods for the treatment and management of adult polyglucosan body disease (APBD) are disclosed herein. The APBD patients studied in the present invention experienced stabilization of disease progression and limited functional improvement with dietary triheptanoin (C7TG). The amount of C7TG administered to the patient daily for 6-8 months was 1-2 g/kg/24 hrs. The present invention demonstrates, for the first time, the arrest of clinical deterioration with limited functional recovery in APBD with triheptanoin diet therapy.

Abstract: Novel therapies for the treatment of Fabry disease by using androgen/androgen receptor (AR) pathway-related molecules as biomarkers and use of approaches targeting androgen/AR pathway are presented herein. The involvement of aberrant androgen/AR pathway in Fabry disease has never been previously described. The present invention describes, (i) use of approaches that target androgen/AR pathway as therapeutic treatments for Fabry disease and (2) use of the levels of androgen/AR pathway-related molecules in body fluids or tissues as biomarkers for evaluation of disease progression and efficacy of treatments in Fabry patients.

Abstract: The present invention describes a method for determination of urinary globotriaosylceramide (Gb3) levels in non-Fabry disease cardiac patients. Determination of Gb3 levels provides a screening method for determining cardiac risk and may offer an alternative therapeutic option for cardiac disease management or cardiac disease risk mitigation by lowering Gb3 levels by the use of pharmacological chaperones or other agents.

Abstract: Compositions comprising inhibitors of lysosomal enzyme alpha-galactosidase A and their use to favor hair growth or to prevent hair loss are disclosed in the instant invention. The topical use of the composition of the instant invention directly inhibits scalp enzyme activity and is used in the treatment for male pattern baldness (androgenic alopecia) in men and women.

Abstract: Blood and tissue markers of the metabolic status, risk of health complications in Fabry disease patients and as a biomarker to follow the efficacy of treatment in animal models and patients with Fabry disease comprising tetrahydrobiopterin (BH4), precursors and metabolites of BH4, and other related co-factors is disclosed herein. The present invention further describes the use of BH4 therapy as a treatment option for Fabry disease to prevent, slow or reverses vascular cardiac and renal manifestations of Fabry disease.