CPT: Pharmacometrics &Systems Pharmacology, EarlyView.ABSTRACT Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine‐learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the ...
Fianne Sips +9 more
wiley +1 more source
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry [PDF]
, 2016 Silvia Tortorelli +6 more
openalex +1 more source
Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders [PDF]
, 2020 Alex E. Ryckman +2 more
openalex +1 more source
The Impact of QSP Modeling on the Design and Optimization of Gene Therapy Approaches
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.ABSTRACT Quantitative Systems Pharmacology (QSP) is increasingly utilized to support the design and translation of gene therapies. This perspective outlines the application of QSP modeling across three domains of gene therapy: mRNA‐based therapeutics, adeno‐associated virus (AAV) vectors, and genome editing systems.
Noha Rayad +2 more
wiley +1 more source
Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder. [PDF]
J Radiol Case Rep, 2015 Malatt C, Koning JL, Naheedy J.
europepmc +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, EarlyView.
A George
wiley +1 more source
Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing
Small, EarlyView.The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa +4 more
wiley +1 more source
Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders [PDF]
, 2015 Jyotsna Verma +8 more
openalex +1 more source
Small, EarlyView.This review summarizes biomimetic design strategies for carbon‐based nanomaterials, including graphene oxide, carbon dots, and nanotubes, highlighting their tunable physicochemical properties for advanced biosensing and theranostic systems. Defined approaches such as DNA templating, peptide‐assisted assembly, and fluorescence switching are discussed ...
Marzieh Ramezani Farani +10 more
wiley +1 more source
Advancing Tuberculosis Chemotherapy: Targeted Nanomedicines for the Mycobacterium TB Granuloma
Small, EarlyView.This graphical abstract illustrates nanosystems used for targeted drug delivery into tuberculosis granulomas. It shows how targeting is influenced by size, pH, redox sensitivity, and surface charge. Various nanoparticles are incorporated with drugs to enhance penetration, stability, and release.
Shreya Ranjith Singh +3 more
wiley +1 more source