Forbes D. Porter

Medical Genetics | Pediatrics

10 Center Dr
10-crc, Room 5-2571
Bethesda, MD 20892

Last Updated: 09/26/2026

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Found 170 publications

Lack of cathepsin B increases severity in Niemann-Pick disease, type C1 mice.

Lack of cathepsin B increases severity in Niemann-Pick disease, type C1 mice.

Journal: Neuroscience letters

Published: July 18, 2026

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study.

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study.

Journal: Orphanet journal of rare diseases

Published: May 18, 2026

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

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

Journal: Research square

Published: April 29, 2026

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

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

Journal: Molecular genetics and metabolism

Published: March 25, 2026

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

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

Journal: medRxiv : the preprint server for health sciences

Published: February 26, 2026

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

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

Journal: bioRxiv : the preprint server for biology

Published: February 23, 2026

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

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

Journal: Biomarker research

Published: February 09, 2026

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

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

Journal: Journal of inherited metabolic disease

Published: October 31, 2025

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

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

Journal: Molecular genetics and metabolism

Published: September 11, 2025

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

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

Journal: Molecular genetics and metabolism

Published: August 29, 2025

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

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

Journal: Molecular genetics and metabolism reports

Published: August 25, 2025

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

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

Journal: American journal of medical genetics. Part A

Published: August 22, 2025

Showing 1-12 of 170

Last Updated: 09/26/2026