CLN2 Disease

Title

Authors

Monitoring neuropsychological function in CLN2 disease

Poster: #345

Nickel M, Augustine E, Adams H, Baron I, Bjoraker K, Cohen-Pfeffer J, Delaney K, Elmerskog B, Newsom-Davis I, Rust S, Shapiro E, Tøssebro A, Schulz A

Experiences of CLN2 disease diagnosis in the UK

Poster: #357

Burke D, Church H, Jackson M, Powers V, Tylee K

Intracerebroventricular cerliponase alfa in children with CLN2 disease: interim results from an ongoing multicenter, multinational extension study

Poster: #367

Schulz A, de los Reyes E, Specchio N, Gissen P, Cahan H, Slasor P, Ajayi T, Jacoby D

Phenylketonuria (PKU)

Title

Authors

Burden of illness in adult patients with phenylketonuria and associated comorbidities – a retrospective database study in Germany

Poster: #095

Rutsch F, Muntau AC, Alvarez I, Lane P, Altevers J, Kohlscheen KM, Jacob C, Jain M, Schroeder C,

Jha A, Treftz F

Efficacy & safety of sapropterin in PKU patients <4 yrs: 3-year extension of SPARK open-label, randomized phase 3b trial

Poster: #097

Rutsch F, Burlina A, Eyskens F, Freisinger P,

De Laet C, Leuzzi V, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Mould DR, Lane P, Alvarez I, Muntau A

Prevalence of comorbidities among phenylketonuria patients – a retrospective study of US health insurance claims data

Poster: #098

Burton B, Cederbaum S, Jurecki E, Lilienstein J, Alvarez I, Cohen-Pfeffer J, Irwin D, Levy H, Rohr

The burden of illness in adults with phenylketonuria (PKU): interim analysis of a cross-sectional study

Poster: #099

Burton B, Longo N, Stuy M, Vockley J, van Backle J, Lane P, Alvarez I, Lilienstein J, Jurecki E

International best practice recommendations for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Poster: #117

Bhattacharya K, Adams D, Belanger-Quintana A, Bushueva T, Cerone R, Chien N, Chiesa A, Coskun T, De la Heras Montero J, Feillet F, Katz R, Lagler F, Muntau A, Piazzon F, Rohr F, Spronsen F, Vargas P, Wilcox G

Phase 3 PRISM clinical trials evaluating efficacy and safety of pegvaliase for treatment of adults with phenylketonuria

Poster: #122

Thomas J, Levy H, Amato S, Vockley G, Zori R, Dimmock C, Harding C, Bilder D, Weng HH, Olbertz J, Merilainen M, Rosen O, Gupta S, Gu K, Larimore K, Northrup H

Long-term safety of induction, titration, and maintenance dosing of pegvaliase treatment in adults with phenylketonuria

Poster: #123

Burton B, Harding C, Thomas J, Longo N, Posner J, Dimmock D, Zori R, Weng H, Olbertz J, Gershman E, Rosen O, Gupta S, Jones S, Gu K, Vockley J

Characterization of hypophenylalaninemia in pegvaliase treated adults with PKU

Poster: #124

Harding C, Thomas J, Burton B, Zori R, Dimmock D, Vockley J, Weng HH, Olbertz J, Gershman A,

Rosen O, Jones S, Li M, Longo N

An interim analysis of the KAMPER and PKUDOS registries: efficacy and safety of sapropterin before and during pregnancy

Poster: #125

Feillet F, Ficicioglu C, Lagler FB, Longo N, Alm J, Muntau AC, Burlina A, Belanger-Quintana A, Trefz FK, Kittus R, Jurecki E, Alvarez I, Lilienstein J, Burton B

A meta-analysis of growth outcomes in phenylketonuria patients treated with phenylalanine-restricted diet + sapropterin

Poster: #126

Muntau A, Feillet F, Burton B, McDonald A, Wessel A, Alvarez I, Lilienstein J, Lane P, Jurecki E, Longo N

Mucopolysaccharidosis (MPS)

Title

Authors

Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)

Poster: #315

Harmatz P, Cleary M, de Castro Lopez MJ, Lee J, Lin S, Okur I, Ezgu F, Muschol N, Peters H, Solano Villarreal MS, Shaywitz AJ, Cahan H, Grover A, Maricich SM, Melton A, Smith L, Couce ML

ICV-administered BMN 250 (NAGLU-IGF2) is well tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB)

Poster: #316

Lin S, Cleary M, Couce ML, de Castro Lopez MJ, Harmatz P, Lee J, Okur I, Ezgu F, Peters H, Villarreal MS, Shaywitz AJ, Cahan H, Grover A, Maricich SM, Melton A, Smith L, Muschol N

Critical care situations in patients with mucopolysaccharidosis (MPS)

Poster: #321

Stepien K, Geavorkian A, Hendriksz C, Lobzhanidze T, Perez-Lopez J, del Toro M, Vashakmadze N, Lampe C

Transition from paediatric to adult care in patients with mucopolysaccharidosis (MPS)

Poster: #324

Lampe C, McNelly B, Geavorkian A, Hendriksz C, Lobzhanidze T, Perez-Lopez J, Vashakmadze N,

del Toro M

Mucopolysaccharidosis VI enzyme replacement therapy outcomes across the disease spectrum:  findings from the MPS VI clinical surveillance program

Poster: #362

Harmatz P, Lampe C, Teles EL, Parini R, Sharma R, Sivam D, Johnson J, Hawley S, Sisic Z

Enzyme replacement therapy in patients with mucopolysaccharidosis VI: updated findings from the MPS VI clinical surveillance program

Poster: #363

Harmatz P, Lampe C, Leão-Teles E, Parini R, Sharma R, Sivam D, Johnson J, Sisic Z

Mucopolysaccharidosis VI enzyme replacement therapy initiated in adulthood: findings from the MPS VI clinical surveillance program

Poster: #364

Lampe C, Harmatz, Leão-Teles E, Parini R, Sharma R, Sivam D, Johnson J, Hawley S, Sisic Z

Investors: 

Media:

Traci McCarty

Debra Charlesworth

BioMarin Pharmaceutical Inc.

BioMarin Pharmaceutical Inc.

(415) 455-7558 

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