Search Results - "Porter FD"

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice.

Authors: Mylvara AV Gibson AL Gu T et al.

Source: Life science alliance [Life Sci Alliance] 2026 Mar 30; Vol. 9 (6). Date of Electronic Publication: 2026 Mar 30 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.

Authors: Farmer C Lewis M Farhat N et al.

Source: Journal of child neurology [J Child Neurol] 2026 Jan; Vol. 41 (1), pp. 43-53. Date of Electronic Publication: 2025 Jun 17.

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.

Authors: Kell P Mishra S D'Souza P et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jul; Vol. 148 (3), pp. 110159. Date of Electronic Publication: 2026 May 17.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.

Authors: Perreault J Porter FD Nowaczyk MJM

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1740-1741. Date of Electronic Publication: 2026 Feb 24.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE; In Process

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Authors: Singhal K Menold MT Cawley NX et al.

Source: Biomarker research [Biomark Res] 2026 May 09; Vol. 14 (1). Date of Electronic Publication: 2026 May 09.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101607860 Publication Model: Electronic Cited Medium: Print ISSN: 2050-7771 (Print) Linking ISSN: 20507771 NLM ISO Abbreviation: Biomark Res Subsets: PubMed not MEDLINE

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Authors: Hiwot T Porter FD Bremova-Ertl T et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2026 May; Vol. 49 (3), pp. e70185.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1.

Authors: Padilla CJ Alexander DM Labor DA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 May; Vol. 197 (5), pp. e63970. Date of Electronic Publication: 2024 Dec 17.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Modulation of glutamate metabolism in Niemann-pick disease type C1 mice.

Authors: Cougnoux A Alvarez CS Maria AG et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2026 Mar 05; Vol. 46, pp. 101303. Date of Electronic Publication: 2026 Mar 05 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1.

Authors: Agrawal N Bianconi S Jaeger R et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Mar; Vol. 147 (3), pp. 109716. Date of Electronic Publication: 2025 Dec 29.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.

Authors: Bowman GR Rahhal SN Porter FD

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Mar; Vol. 200 (3), pp. 755-758. Date of Electronic Publication: 2025 Dec 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE; In Process

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Authors: Singhal K Menold MT Cawley NX et al.

Source: Research square [Res Sq] 2026 Feb 23. Date of Electronic Publication: 2026 Feb 23.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

Generation and characterization of human iPSC-derived NPC1 ^{I1061T/I10161T} i³Neurons as a model for NPC1 disease.

Authors: Salhotra S Cawley NX White C et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Feb 13. Date of Electronic Publication: 2026 Feb 13.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Authors: Miller JS Farmer C Blair S et al.

Source: Pediatric neurology [Pediatr Neurol] 2026 Feb; Vol. 175, pp. 8-18. Date of Electronic Publication: 2025 Oct 30.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.

Authors: Cawley NX Zhou R Farhat NM et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Mar; Vol. 48 (2), pp. e70016.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.

Authors: Selvaraman A Rahhal S Bianconi S et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Feb; Vol. 197 (2), pp. e63875. Date of Electronic Publication: 2024 Sep 13.

Publication Type: Journal Article; Observational Study; Research Support, N.I.H., Intramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Authors: Singhal K Menold MT Cawley NX et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jan 18. Date of Electronic Publication: 2026 Jan 18.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.

Authors: Porter FD Alexander DM Albert OK et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Dec; Vol. 146 (4), pp. 109254. Date of Electronic Publication: 2025 Oct 06.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Cholesterol Depletion with U18666A and Methyl-β Cyclodextrin Increased Small Molecule Permeability Across Brain Microvascular Endothelial Cells.

Authors: Moiz B Vargas VA Brandon KD et al.

Source: Annals of biomedical engineering [Ann Biomed Eng] 2025 Nov; Vol. 53 (11), pp. 3222-3236. Date of Electronic Publication: 2025 Sep 17.

Publication Type: Journal Article

Journal Info: Publisher: Springer Science + Business Media Country of Publication: United States NLM ID: 0361512 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-9686 (Electronic) Linking ISSN: 00906964 NLM ISO Abbreviation: Ann Biomed Eng Subsets: MEDLINE

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.

Authors: Solomon BI Muñoz AM Sinaii N et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 11; Vol. 19 (1), pp. 231. Date of Electronic Publication: 2024 Jun 11.

Publication Type: Journal Article; Research Support, N.I.H., Intramural

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment.

Authors: Casazza K Cologna SM Berry-Kravis E et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Sep; Vol. 48 (5), pp. e70075.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE