Harmatz PR - Search Results

1

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.

Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA. Muenzer J, et al. Among authors: harmatz pr. Orphanet J Rare Dis. 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3. Orphanet J Rare Dis. 2023. PMID: 37974184 Free PMC article.

2

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Akyol MU, et al. Orphanet J Rare Dis. 2019 Jun 13;14(1):137. doi: 10.1186/s13023-019-1074-9. Orphanet J Rare Dis. 2019. PMID: 31196221 Free PMC article.

3

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.

Lau H, Harmatz P, Botha J, Audi J, Link B. Lau H, et al. Mol Genet Metab Rep. 2023 Sep 8;37:101005. doi: 10.1016/j.ymgmr.2023.101005. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053935 Free PMC article.

4

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.

Herzeg A, Borges B, Lianoglou BR, Gonzalez-Velez J, Canepa E, Munar D, Young SP, Bali D, Gelb MH, Chakraborty P, Kishnani PS, Harmatz P, Cohen JL, MacKenzie TC. Herzeg A, et al. Prenat Diagn. 2023 Dec;43(13):1638-1649. doi: 10.1002/pd.6460. Epub 2023 Nov 13. Prenat Diagn. 2023. PMID: 37955580 Free PMC article. Review.

5

Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).

Sohn YB, Wang R, Ashworth J, Broqua P, Tallandier M, Abitbol JL, Jozwiak E, Pollard L, Wood TC, Aslam T, Harmatz PR. Sohn YB, et al. Among authors: harmatz pr. Mol Genet Metab Rep. 2023 Dec 28;38:101041. doi: 10.1016/j.ymgmr.2023.101041. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38234862 Free PMC article.

6

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.

Grant N, Sohn YB, Ellinwood NM, Okenfuss E, Mendelsohn BA, Lynch LE, Braunlin EA, Harmatz PR, Eisengart JB. Grant N, et al. Among authors: harmatz pr. Mol Genet Metab Rep. 2022 Feb 2;30:100845. doi: 10.1016/j.ymgmr.2022.100845. eCollection 2022 Mar. Mol Genet Metab Rep. 2022. PMID: 35242576 Free PMC article.

7

Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.

Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, Whitley CB, Nestrasil I. Kovac V, et al. Among authors: harmatz pr. Mol Genet Metab. 2022 Feb;135(2):122-132. doi: 10.1016/j.ymgme.2022.01.001. Epub 2022 Jan 7. Mol Genet Metab. 2022. PMID: 35012890 Free PMC article.

8

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Lampe C, Harmatz PR, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Lampe C, et al. Among authors: harmatz pr. Mol Genet Metab. 2019 Aug;127(4):355-360. doi: 10.1016/j.ymgme.2019.06.008. Epub 2019 Jul 2. Mol Genet Metab. 2019. PMID: 31324526 Free article.

9

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Harmatz PR, et al. J Inherit Metab Dis. 2019 May;42(3):519-526. doi: 10.1002/jimd.12079. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30834539

10

Spinal cord issues in adult patients with MPS: transition of care survey.

Ghotme KA, Alvarado-Gomez F, Lampe C, White KK, Solano-Villareal M, Giugliani R, Harmatz PR. Ghotme KA, et al. Among authors: harmatz pr. Childs Nerv Syst. 2018 Sep;34(9):1759-1765. doi: 10.1007/s00381-018-3834-6. Epub 2018 May 27. Childs Nerv Syst. 2018. PMID: 29804213

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