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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

18 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Lander JM, Penon-Portmann M, Sutton VR, Chang I; ACMG Therapeutics Committee5∗[email protected]. Lander JM, et al. Among authors: penon portmann m. Genet Med Open. 2024 Apr 5;2:101832. doi: 10.1016/j.gimo.2024.101832. eCollection 2024. Genet Med Open. 2024. PMID: 39669629 Free PMC article. No abstract available.
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: penon portmann m. HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. Epub 2023 Sep 3. HGG Adv. 2023. PMID: 37660254 Free PMC article.
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Penon-Portmann M, Poskanzer SA, Ganesh J, Chang I; ACMG Therapeutics Committee4∗[email protected]. Penon-Portmann M, et al. Genet Med Open. 2023 Apr 17;1(1):100780. doi: 10.1016/j.gimo.2023.100780. eCollection 2023. Genet Med Open. 2023. PMID: 39669258 Free PMC article. No abstract available.
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: penon portmann m. medRxiv [Preprint]. 2023 Jan 31:2023.01.30.23285099. doi: 10.1101/2023.01.30.23285099. medRxiv. 2023. Update in: HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236 PMID: 36778397 Free PMC article. Updated. Preprint.
Current and new therapies for mucopolysaccharidoses.
Penon-Portmann M, Blair DR, Harmatz P. Penon-Portmann M, et al. Pediatr Neonatol. 2023 Feb;64 Suppl 1:S10-S17. doi: 10.1016/j.pedneo.2022.10.001. Epub 2022 Oct 26. Pediatr Neonatol. 2023. PMID: 36464587 Free article. Review.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. Penon-Portmann M, et al. Am J Med Genet A. 2022 Aug;188(8):2360-2366. doi: 10.1002/ajmg.a.62872. Epub 2022 Jun 25. Am J Med Genet A. 2022. PMID: 35751429 Free PMC article.
18 results