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

31 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation.
Caldirola MS, Seminario AG, Luna PC, Curciarello R, Docena GH, Fernandez Escobar N, Drelichman G, Gattorno M, de Jesus AA, Goldbach-Mansky R, Gaillard MI, Bezrodnik L. Caldirola MS, et al. Among authors: drelichman g. Front Pediatr. 2023 Mar 10;11:1108207. doi: 10.3389/fped.2023.1108207. eCollection 2023. Front Pediatr. 2023. PMID: 36969289 Free PMC article.
Testicular dysfunction at diagnosis in children and teenagers with haematopoietic malignancies improves after initial chemotherapy.
Lopez Dacal J, Prada S, Correa Brito L, Ropelato MG, Ballerini MG, Rodriguez ME, Gutiérrez ME, Soria M, Morán L, Ferraro C, Bedecarrás P, Drelichman G, Aversa L, Bergadá I, Rey RA, Grinspon RP. Lopez Dacal J, et al. Among authors: drelichman g. Front Endocrinol (Lausanne). 2023 May 16;14:1135467. doi: 10.3389/fendo.2023.1135467. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37260445 Free PMC article.
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease.
Drelichman GI, Fernández Escobar N, Soberon BC, Basack NF, Frabasil J, Schenone AB, Aguilar G, Larroudé MS, Knight JR, Zhao D, Ruan J, Mistry PK; Argentine Group for Diagnosis and Treatment of Gaucher Disease. Drelichman GI, et al. Mol Genet Metab Rep. 2021 Nov 11;29:100820. doi: 10.1016/j.ymgmr.2021.100820. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820281 Free PMC article.
A few challenges in mucopolysaccharidosis type I.
Bay L, Amartino H, Antacle A, Arberas C, Berretta A, Botto H, Cazalas M, Copiz A, De Cunto C, Drelichman G, Espada G, Eiroa H, Fainboim A, Fano V, Guelber N, Maffey A, Parisi C, Pereyra M, Remondino R, Schenone A, Spécola N, Staciuk R, Zuccaro G. Bay L, et al. Among authors: drelichman g. Arch Argent Pediatr. 2021 Jun;119(3):e193-e201. doi: 10.5546/aap.2021.e193. Arch Argent Pediatr. 2021. PMID: 34033424 Free article. English, Spanish.
New recommendations for the care of patients with mucopolysaccharidosis type I.
Bay L, Amartino H, Antacle A, Arberas C, Berretta A, Botto H, Cazalas M, Copiz A, De Cunto C, Drelichman G, Espada G, Eiroa H, Fainboim A, Fano V, Guelber R, Maffey A, Parisi C, Pereyra M, Remondino R, Schenone A, Spécola N, Staciuk R, Zuccaro G. Bay L, et al. Among authors: drelichman g. Arch Argent Pediatr. 2021 Apr;119(2):e121-e128. doi: 10.5546/aap.2021.eng.e121. Arch Argent Pediatr. 2021. PMID: 33749201 Free article. Review. English, Spanish.
[Phaeohyphomycosis by Exserohilum rostratum in a pediatric patient with acute lymphoblastic leukemia after bone marrow transplantation].
Pena Amaya P, Flores A, Christmann A, Detoni D, Drelichman G, Soberón B, Fernández Escobar N, Córdoba S, Vazquez M. Pena Amaya P, et al. Among authors: drelichman g. Rev Argent Microbiol. 2020 Jul-Sep;52(3):195-197. doi: 10.1016/j.ram.2019.11.002. Epub 2019 Dec 20. Rev Argent Microbiol. 2020. PMID: 31870615 Free article. Spanish.
The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease.
Drelichman G, Castañeda-Hernández G, Cem Ar M, Dragosky M, Garcia R, Lee H, Moiseev S, Naderi M, Rosenbaum H, Žnidar I, Zuluaga AF, Freisens S, Mistry PK. Drelichman G, et al. Am J Hematol. 2020 Mar;95(3):233-237. doi: 10.1002/ajh.25701. Epub 2019 Dec 23. Am J Hematol. 2020. PMID: 31816110 Free PMC article. Review. No abstract available.
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Among authors: drelichman g. Blood Cells Mol Dis. 2019 Jul;77:101-102. doi: 10.1016/j.bcmd.2019.04.003. Epub 2019 Apr 9. Blood Cells Mol Dis. 2019. PMID: 31029022 No abstract available.
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Mistry PK, et al. Among authors: drelichman g. Blood Cells Mol Dis. 2018 Jul;71:71-74. doi: 10.1016/j.bcmd.2018.04.001. Epub 2018 Apr 9. Blood Cells Mol Dis. 2018. PMID: 29680197 Free article. No abstract available.
31 results