Search Results - "Rodriguez-Rassi E"

Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.

Authors: Desai AK Rodriguez-Rassi E Parikh S et al.

Source: Genetics in medicine open [Genet Med Open] 2025 Dec 04; Vol. 4, pp. 103478. Date of Electronic Publication: 2025 Dec 04 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

Authors: Estevez Barcia, Rebeca Colón, Cristóbal Hermida-Ameijeiras, Álvaro et al.

Source: International Journal of Molecular Sciences. Jul2026, Vol. 27 Issue 13, p5726. 25p.

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.

Authors: Cohen JL Beaman MM Rodriguez-Rassi E et al.

Source: JIMD reports [JIMD Rep] 2026 Jan 23; Vol. 67 (1), pp. e70060. Date of Electronic Publication: 2026 Jan 23 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Urinary extracellular vesicle metabolomic profiling reveals a distinct molecular signature for the non-invasive diagnosis of lupus nephritis.

Authors: Zhang N Dong N Xie A et al.

Source: Frontiers in immunology [Front Immunol] 2026 Feb 17; Vol. 17, pp. 1741455. Date of Electronic Publication: 2026 Feb 17 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.

Authors: Maines E Franceschi R Luppi G et al.

Source: Metabolites [Metabolites] 2025 Jun 23; Vol. 15 (7). Date of Electronic Publication: 2025 Jun 23.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

Dual adhesive unipolar polysaccharides synthesized by overlapping biosynthetic pathways in Agrobacterium tumefaciens.

Authors: Onyeziri MC Hardy GG Natarajan R et al.

Source: Molecular microbiology [Mol Microbiol] 2022 May; Vol. 117 (5), pp. 1023-1047. Date of Electronic Publication: 2022 Mar 04.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8712028 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2958 (Electronic) Linking ISSN: 0950382X NLM ISO Abbreviation: Mol Microbiol Subsets: MEDLINE