Innovative therapeutics


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

On the Market

Kuvan® for PKU
Aldurazyme® (laronidase) for MPS I
Naglazyme® (galsulfase) for MPS VI

Investigational Product Candidates


Hendriksz C, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis. 2014 Nov;37(6):979-90

Hendriksz C, et al. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. Molecular Genetics & Metabolism. 2015 Feb;114(2):178-185

Hendriksz C, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015 Jan;167A(1):11-25.

Pegvaliase for PKU

Aldurazyme® (laronidase) for MPS I

Giugliani R, et al. A dose-optimization trial of laronidase Aldurazyme in patients with mucopolysaccharidosis I. Mol Genet Metab, 2008 Nov 25, Pages e1-7

Pastores GM. Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I. Expert Opin Biol Ther, 2008 Jul, Vol.8, Pages 1003-9

Cáceres-Marzal C, et al. Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme). Am J Med Genet A, 2008 Jul 1, Vol.146A, Pages 1768-70

Hirth A, et al. Successful treatment of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis, 2007 Oct, Vol.30, Pages 820

Pitz S, et al. Ocular changes in patients mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience. Arch Ophthalmol, 2007 Oct, Vol.125, Pages 1353-6 

Naglazyme® (galsulfase) for MPS VI

Giugliani R, et al. Natural History and Galsufase Treatment in Mucopolysaccharidosis VI (MPSVI, Maroteaux-Lamy Syndrome) – 10 year follow up of patients who previously participated in an MPS VI survey study. Am J Med Genet A. 2014 Aug;164A(8):1953-64.            

Giugliani R, et al. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007 Aug;120(2):405-18.

Harmatz P, et al. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Molecular Genetics and Metabolism. 2008 Aug;94(4):469-75.

Harmatz P, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. Journal of Inherited Metabolic Disease. 2010 Feb;33(1):51-60.

McGill JJ, et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study. Clinical Genetics. 2010 May;77(5):492-8.

Solanki GA, et al. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Molecular Genetics & Metabolism. 2012 Sep;107(1-2):15-24.

Wood T, et al. Expert recommendations for the laboratory diagnosis of MPS VI. Molecular Genetics & Metabolism. 2012 May;106(1):73-82. 

Kuvan® (sapropterin dihydrochloride) Tablets (formerly known as Phenoptin™) and Powder 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.)

Koch R. Maternal phenylketonuria and tetrahydrobiopterin. Pediatrics, 2008 Dec; 122(6):1367-8.

Feillet F, et al. Pharmacokinetics of Sapropterin in Patients with Phenylketonuria. Clin Pharmacokinet, 2008; 47(12):817-825.

Lee P, et al. Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A, 2008 Nov 15, Vol.146A, Pages 2851-9

Morrow T. Recently-approved sapropterin reduces phenylalanine levels. Manag Care, 2008 Mar, Vol.17, Pages 57-8

Sapropterin (Kuvan) for phenylketonuria. Med Lett Drugs Ther, 2008 Jun 2, Vol.50, Pages 43-4

Blau N. Defining tetrahydrobiopterin (BH4)-responsiveness in PKU. J Inherit Metab Dis, 2008 Feb, Vol.31, Pages 2-3

Michals-Matalon K. Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria. Expert Opin Investig Drugs, 2008 Feb, Vol.17, Pages 245-51

Langenbeck U. Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias. J Inherit Metab Dis, 2008 Feb, Vol.31, Pages 67-72

Doggrell SA. Is sapropterin treatment suitable for all subjects with phenylketonuria? Expert Opin Pharmacother, 2008 Jan, Vol.9, Pages 145-7

Levy H, et al. Recommendations for evaluation of responsiveness to tetrahydrobiopterin BH4 in phenylketonuria and its use in treatment. Mol Genet Metab, 2007 Dec, Vol.92, Pages 287-91

Levy HL, et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet, 2007 Aug 11, Vol.370, Pages 504-10

Burnett JR. Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. IDrugs, 2007 Nov, Vol.10, Pages 805-13

Burton BK, et al. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis, 2007 Oct, Vol.30, Pages 700-7

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.

Pegvaliase (formerly Pheynylase™ [phenylalanine ammonia lyase]) for PKU

Gámez A, et al. Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria. Mol Genet Metab, 2007 Aug, Vol.91, Pages 325-34

Sarkissian CN, Gámez A. Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now? Mol Genet Metab, 2005 Dec, Vol.86 Suppl 1, Pages S22-6

Ikeda K, et al. Phenylalanine ammonia-lyase modified with polyethylene glycol: potential therapeutic agent for phenylketonuria. Amino Acids, 2005 Nov, Vol.29, Pages 283-7

Gámez A, et al.Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. Mol Ther, 2005 Jun, Vol.11, Pages 986-9

Kim W, et al. Trends in enzyme therapy for phenylketonuria. Mol Ther, 2004 Aug, Vol.10, Pages 220-4

Blau N, Scriver CR. New approaches to treat PKU: how far are we? Mol Genet Metab, 2004 Jan, Vol.81, Pages 1-2

Sarkissian CN, et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A, 1999 Mar 2, Vol.96, Pages 2339-44

Hoskins JA, et al. Enzymatic control of phenylalanine intake in phenylketonuria. Lancet, 1980 Feb 23, Vol.1, Pages 392-4

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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Palynziq - BioMarin
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Click here to learn more about Vimizim (elosulfase alfa), including full prescribing information and boxed warning.

Click here to learn more about Naglazyme (galsulfase), including full prescribing information.

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BioMarin products - Kuvan
Click here to learn more about Kuvan (sapropterin dihydrochloride) Tablets for Oral Use and Powder for Oral Solution, including full prescribing information.



Lysosomal Storage Disorders (MPS I, MPS IVA, MPS VI, CLN2 disease) PKU, LEMS



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