Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 2
1982 3
1983 1
1984 2
1985 1
1986 2
1987 5
1988 1
1989 4
1990 1
1991 3
1992 3
1993 4
1994 1
1995 1
1996 1
1998 1
1999 2
2000 1
2001 2
2002 1
2004 6
2005 9
2006 7
2007 9
2008 17
2009 11
2010 15
2011 11
2012 9
2013 19
2014 13
2015 14
2016 9
2017 12
2018 9
2019 9
2020 7
2021 5
2022 13
2023 11
2024 7
2025 11

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

240 results

Results by year

Filters applied: . Clear all
Page 1
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K. Kishnani PS, et al. Among authors: harmatz p. Mol Genet Metab. 2017 Sep;122(1-2):4-17. doi: 10.1016/j.ymgme.2017.07.010. Epub 2017 Jul 25. Mol Genet Metab. 2017. PMID: 28888853 Free article. Review.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J. Savarirayan R, et al. Among authors: harmatz p. Lancet. 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5. Lancet. 2020. PMID: 32891212 Clinical Trial.
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
Savarirayan R, Wilcox WR, Harmatz P, Phillips J 3rd, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day J. Savarirayan R, et al. Among authors: harmatz p. Lancet Child Adolesc Health. 2024 Jan;8(1):40-50. doi: 10.1016/S2352-4642(23)00265-1. Epub 2023 Nov 18. Lancet Child Adolesc Health. 2024. PMID: 37984383 Clinical Trial.
Oral Infigratinib Therapy in Children with Achondroplasia.
Savarirayan R, De Bergua JM, Arundel P, Salles JP, Saraff V, Delgado B, Leiva-Gea A, McDevitt H, Nicolino M, Rossi M, Salcedo M, Cormier-Daire V, Skae M, Kannu P, Phillips J 3rd, Saal H, Harmatz P, Candler T, Hill D, Muslimova E, Weng R, Bai Y, Raj S, Hoover-Fong J, Irving M, Rogoff D. Savarirayan R, et al. Among authors: harmatz p. N Engl J Med. 2025 Feb 27;392(9):865-874. doi: 10.1056/NEJMoa2411790. Epub 2024 Nov 18. N Engl J Med. 2025. PMID: 39555818 Clinical Trial.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JRS. Savarirayan R, et al. Among authors: harmatz p. Genet Med. 2021 Dec;23(12):2443-2447. doi: 10.1038/s41436-021-01287-7. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341520 Free PMC article. Clinical Trial.
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.
Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Palm K, Prada CE, Kubota T, Arundel P, Kotani Y, Leiva-Gea A, Bober MB, Hecht JT, Legare JM, Lawrinson S, Low A, Sabir I, Huntsman-Labed A, Day JRS. Savarirayan R, et al. Among authors: harmatz p. Med. 2025 May 9;6(5):100566. doi: 10.1016/j.medj.2024.11.019. Epub 2024 Dec 30. Med. 2025. PMID: 39740666 Free article. Clinical Trial.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. Among authors: harmatz p. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, Gelb MH, Khaledi H, DiBattista A, Smallshaw S, Moretti F, Wong D, Lacroix C, El Demellawy D, Strickland KC, Lougheed J, Moon-Grady A, Lianoglou BR, Harmatz P, Kishnani PS, MacKenzie TC. Cohen JL, et al. Among authors: harmatz p. N Engl J Med. 2022 Dec 8;387(23):2150-2158. doi: 10.1056/NEJMoa2200587. Epub 2022 Nov 9. N Engl J Med. 2022. PMID: 36351280 Free PMC article.
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.
Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Mohnike K, Prada CE, Kubota T, Arundel P, Leiva-Gea A, Rowell R, Low A, Sabir I, Huntsman-Labed A, Day J. Savarirayan R, et al. Among authors: harmatz p. Genet Med. 2024 Dec;26(12):101274. doi: 10.1016/j.gim.2024.101274. Epub 2024 Sep 18. Genet Med. 2024. PMID: 39305160 Free article. Clinical Trial.
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Valayannopoulos V, et al. Among authors: harmatz p. Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Orphanet J Rare Dis. 2010. PMID: 20385007 Free PMC article. Review.
240 results