Lysosomal Disorders | List of Frontiers open access articles

Review

Published on 17 Nov 2017

Intracellular Cholesterol Trafficking and Impact in Neurodegeneration

in Molecular Signalling and Pathways

Fabian Arenas
Carmen Garcia-Ruiz
Jose C. Fernandez-Checa

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2017.00382

24,387 views
141 citations

Editorial

Published on 12 Oct 2022

Editorial: Genetics of familial hypercholesterolemia: New insight—Volume II

in Genetics of Common and Rare Diseases

Alpo Vuorio
Uma Ramaswami
Kirsten B. Holven

Frontiers in Genetics

doi 10.3389/fgene.2022.1041342

2,773 views

Original Research

Published on 27 Aug 2024

Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals

in Children and Health

Karolina M. Stepien
Irena Žnidar
Beata Kieć-Wilk
Angel Jones
Daniela Castillo-García
Magy Abdelwahab
Shoshana Revel-Vilk
Ella Lineham
Derralynn Hughes
Uma Ramaswami

Frontiers in Pediatrics

doi 10.3389/fped.2024.1439236

3,050 views
1 citation

Editorial

Published on 06 May 2021

Editorial: Genetics of Familial Hypercholesterolemia: New Insight

in Genetics of Common and Rare Diseases

Alpo Vuorio
Uma Ramaswami
Kirsten B. Holven

Frontiers in Genetics

doi 10.3389/fgene.2021.669373

4,275 views
4 citations

Original Research

Published on 31 Jan 2017

Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C

in Membrane Physiology and Membrane Biophysics

Aida Oliván-Viguera
Javier Lozano-Gerona
Laura López de Frutos
Jorge J. Cebolla
Pilar Irún
Edgar Abarca-Lachen
Ana J. García-Malinis
Ángel Luis García-Otín
Yolanda Gilaberte
Pilar Giraldo

Frontiers in Physiology

doi 10.3389/fphys.2017.00039

5,499 views
17 citations

Original Research

Published on 06 Feb 2026

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia

in Pediatric Endocrinology

Kyra Skaf
Minu Fardipour
Philipp Schmidt
Eike Bolmer
Alexandra Keller
Christina Lampe
Julian Jurgens
Mona Lindschau
Katja Palm
Sophie Ruckdeschel

Frontiers in Endocrinology

doi 10.3389/fendo.2026.1741927

721 views

Articles

Intracellular Cholesterol Trafficking and Impact in Neurodegeneration

Editorial: Genetics of familial hypercholesterolemia: New insight—Volume II

Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals

Editorial: Genetics of Familial Hypercholesterolemia: New Insight

Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia