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  The following is a select list of publications associated with BioMarin’s marketed products and investigational product candidates. These publications can be accessed on line at PUBMED.

On the Market
• Aldurazyme® (laronidase) for MPS I
• Naglazyme® (galsulfase) for MPS VI
Investigational Product Candidates
• PEG-PAL for PKU
• 6R-BH4 for Cardiovascular Indications
 
   
Blue Arrow Aldurazyme® (laroniDase) for MPS I  
 
Belichenko PV, Dickson PI, Passage M, et al. Penetration, diffusion, and uptake of recombinant human alpha-L-iduronidase after intraventricular injection into the rat brain. Mol Genet Metab. 2005 [Epub ahead of print].

Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother. 2005; 6(3): 489-506.

Morrow T. Laronidase opens door to treat other rare disorders. Manag Care. 2004; 13(6): 52-53.

Kakkis E, McEntee M, Vogler C, et al. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab. 2004; 83(1-2): 163-174.

Yogalingam G, Guo XH, Muller VJ, et al. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat. 2004; 24(3): 199-207.

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Blue Arrow Naglazyme® (galsulfase) for MPS VI  
 


Harmatz P, Kramer WG, Hopwood JJ, et al. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatrica. 2005, 94(Suppl 447): 61-68.

Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics. 2005; 15(6): e681-9.

Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A. 2005; 134(2): 144-50.

Karageorgos L, Harmatz P, Simon J, et al. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Hum Mutat. 2004; 23(3): 229-33.

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Blue Arrow Phenoptin™ (sapropterin Dihydrochloride) for PKU  
  (Important Note: The following publications include studies that evaluated various formulations of tetrahydrobiopterin (BH4). These studies did not strictly use the formulation of tetrahydrobiopterin (6R-BH4) that is currently being evaluted in BioMarin's Phenoptin program.)

Zhang ZX, Ye J, Qiu WJ, Han LS, Gu XF. [Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test] Zhonghua Er Ke Za Zhi. 2005 May; 43(5): 335-339. Chinese

Perez-Duenas B, Vilaseca MA, Mas A, et al. Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem. 2004; 7(12): 1083-1090.

Pey AL, Perez B, Desviat LR, et al. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat. 2004; 24(5): 388-399.

Steinfeld R, Kohlschutter A, Ullrich K, Lukacs Z. Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria. J Inherit Metab Dis. 2004; 27(4): 449-53.

Matalon R, Koch R, Michals-Matalon K, et al. Biopterin responsive phenylalanine hydroxylase deficiency. Genetics in Medicine. 2004; 6(1): 27-32.

Shintaku H, Kure S, Ohura T, et al. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatric Research. 2004; 55(3): 425-30.

Bernegger C, Blau N. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Molecular Genetics and Metabolism. 2002; 77(4): 304-13.

Muntau AC, Roschinger W, Habich M, e t al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. The New England Journal of Medicine. 2002; 347(26): 2122-32. 		 
   
Blue Arrow Phenylase™ (phenylalanine ammonia lyase) for PKU  
 
Ritter H, Schulz GE. Structural basis for the entrance into the phenylpropanoid metabolism catalyzed by phenylalanine ammonia-lyase. Plant Cell. 2004; 16(12): 3426-3436.

Sarkissian CN, Shao Z, Blain F, et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proceedings of the National Academy of Sciences of the United States of America. 1999; 96(5): 2339-44.
 
     
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Last updated: 05/13/2008