Abstract: The present invention includes solid compositions of triglycerides with one or more fatty acids, such as triheptanoin and glycerol phenylbutyrate, and therapeutic use thereof. The solid compositions can be prepared by spray-drying or other processes.

Abstract: The present invention includes solid compositions of triglycerides with one or more fatty acids, such as triheptanoin and glycerol phenylbutyrate, and therapeutic use thereof. The solid compositions can be prepared by spray-drying or other processes.

Abstract: Disclosed are methods and dosing regimens for treating a patient suffering from osteogenesis imperfecta, comprising administering to the patient a therapeutically effective amount of an anti-sclerostin antibody. The invention also provides an anti-sclerostin antibody for use in the treatment of osteogenesis imperfecta, comprising administering a therapeutically effective amount of the anti-sclerostin antibody each month according to certain dosing regimens.

Abstract: The present invention provides sialic acid analogs and their compositions useful for the treatment of sialic acid deficiencies.

Abstract: The present invention provides sialic acid analogs and their compositions useful for the treatment of sialic acid deficiencies.

Abstract: The present invention provides sialic acid analogs and their compositions useful for the treatment of sialic acid deficiencies.

Abstract: The present invention relates to compositions and methods for treating sialic acid deficiencies comprising extended release formulations.

Abstract: The present invention relates to compositions and methods for treating sialic acid deficiencies comprising extended release formulations.

Abstract: The present invention provides novel creatine analogs useful for treating any creatine deficiency disorders and methods of treating and preventing creatine deficiencies utilizing the present compounds and the pharmaceutical compositions or formulations thereof. Certain embodiments seek to increase the lipophilicty of novel creatine analogs with the goal of improving their bioavailability.

Abstract: Extended release formulations, methods of making, and methods of use, for example, in treatment of sialic acid deficiencies.

Abstract: The present invention provides sialic acid analogs and their compositions useful for the treatment of sialic acid deficiencies.

Abstract: The present invention relates to methods of monitoring and assessing sialic acid deficiency treatment as well as to methods of predicting/determining responsiveness to treatment for a sialic acid deficiency using biomarkers. Sialic acid deficiencies include for example Hereditary Inclusion Body Myopathy (HIBM).

Abstract: The present invention relates to compositions and methods for treating sialic acid deficiencies comprising extended release formulations.

Abstract: The present invention is directed to phenylalanine ammonia-lyase (PAL) produced by prokaryotes, wherein such prokaryotic PAL wherein the PAL variant has a greater phenylalanine-converting activity and/or a reduced immunogenicity as compared to a wild-type PAL. The invention thus provides compositions of bacterial PAL and biologically active fragments, mutants, variants and analogs thereof, as well as methods for the production, purification, and use of such compositions for therapeutic and industrial purposes.

Abstract: The present invention pertains to the use of the protein phenylalanine ammonia-lyase, as well as the biologically-active derivatives of the said protein for preventing or treating diseases associated with a phenylalanine imbalance in a human or animal body. More particularly, the present invention relates to the therapeutic use of the above-cited molecules for preventing or treating a phenylalanine imbalance in vivo. This invention also deals with therapeutic compositions comprising a pharmaceutically active amount of the above-described therapeutic molecules as well as with therapeutic methods using the said therapeutic compositions. Finally, the present invention relates to processes for selecting more therapeutically-effective variants of said protein as well as to the selected variants themselves.

Abstract: The present invention provides a recombinant ?-L-iduronidase and biologically active fragments and mutants thereof, methods to produce and purify this enzyme as well as methods to treat certain genetic disorders including—?-L-iduronidase deficiency and mucopolysaccharidosis I (MPS 1).

Abstract: The present invention provides a recombinant human ?-L-iduronidase and biologically active fragments and muteins thereof with a purity greater than 99%. The present invention further provides large-scale methods to produce and purify commercial grade recombinant human ?-L-iduronidase enzyme thereof.

Abstract: The present invention is directed to a novel methods and compositions for the therapeutic intervention in hyperphenylalaninemia. More specifically, the specification describes methods and compositions for treating various types of phenylketonurias using compositions comprising BH4. Combination therapies of BH4 and other therapeutic regimens are contemplated.

Abstract: A liquid pharmaceutical composition is contemplated that comprises a pharmaceutically effective amount of a drug dissolved or dispersed in an aqueous medium. The aqueous medium consists essentially of water, about 3% to about 10% w/v polyvinylpyrrolidone, about 60% to about 75% w/v of C3-C6 polyol that includes more than 55% w/v of a non-reducing disaccharide, trisaccharide or tetrasaccharide such as sucrose, optionally about 0.01% to about 0.5% w/v of a glycyrrhetic acid, glycyrrhizinate derivative or salt thereof, and one or more flavorants, and preferably includes one or more preservatives. The liquid composition is room temperature stable, and may have a pleasant taste.

Abstract: The present invention provides a formulation comprising a pharmaceutical composition comprising a human recombinant ?-L-iduronidase or biologically active or muteins thereof with a purity of greater than 99%, or in combination with a pharmaceutically acceptable carrier. The present invention further provides methods to treat certain genetic disorders including ?-L-iduronidase deficiency and mucopolysaccharidosis I (MPS 1) by administering said formulation.