Improved Synthesis of Dopamine D3 Receptor Selective Antagonists / Partial Agonists
Methods for Near Real-time Chemical Analysis of Aerosols using Microwave-induced Plasma Spectroscopy
Novel Activators of Pyruvate Kinase for the Treatment of Hemolytic Anemias
Combination Therapy of Human Recombinant N-acetylgalactosamine-6-sulfate sulfatase (hrGALNS) and Chaperones for the Treatment of Mucopolysaccharidosis Type IVA
Multiplexing Homocysteine in Primary Newborn Screening Assays Using Maleimides as Select Derivatization Agents
Oral Treatment of Hemophilia
Substrate Reduction Therapy for Smith-Lemli-Opitz Syndrome and Related Disorders
Smith-Lemli-Opitz Syndrome (SLOS) is a rare autosomal recessive genetic disorder affecting the final step of cholesterol biosynthesis. SLOS is characterized by slow growth before and after birth, mental retardation, and multiple congenital disabilities. There is no FDA approved treatment for SLOS. Patients may benefit moderately from palliative care through an increase in dietary cholesterol to compensate for the endogenous block in cholesterol biosynthesis.
Improved Gene Therapy Vectors for the Treatment of Glycogen Storage Disease Type Ia (GSD-1a)
GSD-Ia is an inherited disorder of metabolism associated with life-threatening hypoglycemia, hepatic malignancy, and renal failure caused by the deficiency of glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC). Current therapy, which primarily consists of dietary modification, fails to prevent long-term complications in many patients, including growth failure, gout, pulmonary hypertension, renal dysfunction, osteoporosis, and hepatocellular adenomas (HCA).
Recombinant Virus Vectors for the Treatment of Glycogen Storage Disease type Ib (GSD-Ib)
Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder caused by deficiencies in glucose-6-phosphate transporter (G6PT), a ubiquitously expressed endoplasmic reticulum (ER) protein that translocates G6P from the cytoplasm into the ER lumen. Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase-α (G6Pase-α or G6PC) or the ubiquitously expressed G6Pase-β. G6PT and G6Pase are functionally co-dependent and form the G6PT/G6Pase complexes.