Works matching Lysosomal storage diseases

Results: 4615

Rheumatologic aspects of lysosomal storage diseases.

Published in:

Clinical Rheumatology, 2007, v. 26, n. 3, p. 335, doi. 10.1007/s10067-006-0299-x

By:

Manger, Bernhard;
Mengel, Eugen;
Schaefer, Roland

Publication type:

Article

Skin Biopsy: A Useful Tool in the Diagnosis of Lysosomal Storage Diseases.

Published in:

Ultrastructural Pathology, 2006, v. 30, n. 6, p. 489, doi. 10.1080/01913120500520986

By:

Alroy, Joseph;
Ucci, Angelo A.

Publication type:

Article

Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.

Published in:

Metabolic Brain Disease, 2014, v. 29, n. 1, p. 1, doi. 10.1007/s11011-013-9455-6

By:

Jakóbkiewicz-Banecka, Joanna;
Gabig-Cimińska, Magdalena;
Banecka-Majkutewicz, Zyta;
Banecki, Bogdan;
Węgrzyn, Alicja;
Węgrzyn, Grzegorz

Publication type:

Article

The emerging role and clinicopathological significance of MFSD12 in cancer and lysosomal storage diseases.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1398320

By:

Liqiong Ding

Publication type:

Article

The incidence rate of hospitalized lysosomal storage diseases in Poland in 2013-2015 based on data from the National Health Fund.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2021, v. 27, n. 3, p. 191, doi. 10.5114/pedm.2021.107715

By:

Grzeszczak, Władysław;
Franek, Edward;
Szypowska, Agnieszka;
Filipow, Winicjusz;
Zięba, Mariusz;
Kabicz, Paweł;
Więckowska, Barbara

Publication type:

Article

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region.

Published in:

Kufa Medical Journal, 2025, v. 21, n. 1, p. 39, doi. 10.36330/kmj.v21i1.1629

By:

Mohammed, Lana Ahmed

Publication type:

Article

Lysosomal Storage Diseases: Heterogeneous Group of Disorders.

Published in:

BioImpacts, 2013, v. 3, n. 4, p. 145, doi. 10.5681/bi.2013.029

By:

Wenger, David A.;
Luzi, Paola;
Rafi, Mohammad A.

Publication type:

Article

Fundamentals of CNS energy metabolism and alterations in lysosomal storage diseases.

Published in:

Journal of Neurochemistry, 2019, v. 148, n. 5, p. 590, doi. 10.1111/jnc.14577

By:

McKenna, Mary C.;
Ferreira, Gustavo C.;
Schuck, Patricia F.

Publication type:

Article

Medicamentos de alto custo para doenças raras no Brasil: o exemplo das doenças lisossômicas.

Published in:

2010

By:

Mônica Vinhas de Souza;
Bárbara Corrêa Krug;
Paulo Dornelles Picon;
Ida Vanessa Doederlein Schwartz

Publication type:

Case Study

Medicamentos de alto custo para doenças raras no Brasil: o exemplo das doenças lisossômicas.

Published in:

Revista Ciência & Saúde Coletiva, 2010, v. 15, p. 3443, doi. 10.1590/S1413-81232010000900019

By:

de Souza, Mônica Vinhas;
Krug, Bárbara Corrêa;
Picon, Paulo Dornelles;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 3, p. 262, doi. 10.5152/TurkArchPediatr.2023.22233

By:

Çelik, Merve Yoldaş;
Canda, Ebru;
Yazıcı, Havva;
Erdem, Fehime;
Özkaya, Pınar Yazıcı;
Sahbudak, Zumrut Bal;
Uçar, Sema Kalkan;
Çoker, Mahmut

Publication type:

Article

Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 2, p. 327, doi. 10.3390/ijms20020327

By:

Faverio, Paola;
Stainer, Anna;
De Giacomi, Federica;
Gasperini, Serena;
Motta, Serena;
Canonico, Francesco;
Pieruzzi, Federico;
Monzani, Anna;
Pesci, Alberto;
Biondi, Andrea

Publication type:

Article

New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy.

Published in:

2021

By:

Schuchman, Edward H.;
Ledesma, Maria D.;
Simonaro, Calogera M.

Publication type:

journal article

Clinical implementation of gene panel testing for lysosomal storage diseases.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.527

By:

Gheldof, Alexander;
Seneca, Sara;
Stouffs, Katrien;
Lissens, Willy;
Jansen, Anna;
Laeremans, Hilde;
Verloo, Patrick;
Schoonjans, An‐Sofie;
Meuwissen, Marije;
Barca, Diana;
Martens, Geert;
De Meirleir, Linda

Publication type:

Article

Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle.

Published in:

Animal Science Journal, 2009, v. 80, n. 5, p. 611, doi. 10.1111/j.1740-0929.2009.00678.x

By:

MASOUDI, Ali Akbar;
YAMATO, Osamu;
YONEDA, Kazuhiro;
TSUJI, Takehito;
MIKAMI, Osamu;
KUNIEDA, Tetsuo

Publication type:

Article

Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship.

Published in:

2022

By:

El-Amawy, Heba Saed;
Dawoud, Heba

Publication type:

Case Study

Treatable lysosomal storage diseases in the advent of disease‐specific therapy.

Published in:

Internal Medicine Journal, 2020, v. 50, p. 5, doi. 10.1111/imj.15100

By:

Peters, Heidi;
Ellaway, Carolyn;
Nicholls, Kathleen;
Reardon, Katrina;
Szer, Jeff

Publication type:

Article

Dried Blood Spot (DBS) Methodology Study for Biomarker Discovery in Lysosomal Storage Disease (LSD).

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 6, p. 382, doi. 10.3390/metabo11060382

By:

Rus, Corina-Marcela;
Di Bucchianico, Sebastiano;
Cozma, Claudia;
Zimmermann, Ralf;
Bauer, Peter

Publication type:

Article

Lysosomal Storage Diseases--Regulating Neurodegeneration.

Published in:

Journal of Experimental Neuroscience, 2015, n. 9, p. 81, doi. 10.4137/JEN.S25475

By:

Onyenwoke, Rob U.;
Brenman, Jay E.

Publication type:

Article

Epidemiology of lysosomal storage diseases in Sweden.

Published in:

Acta Paediatrica, 2014, v. 103, n. 12, p. 1258, doi. 10.1111/apa.12807

By:

Hult, Malin;
Darin, Niklas;
Döbeln, Ulrika;
Månsson, Jan‐Eric

Publication type:

Article

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective.

Published in:

Acta Paediatrica, 2008, p. 69, doi. 10.1111/j.1651-2227.2008.00651.x

By:

Martin, Holly R.;
Poe, Michele D.;
Reinhartsen, Debra;
Pretzel, Rebecca E.;
Roush, Jackson;
Rosenberg, Angela;
Dusing, Stacey C.;
Escolar, Maria L.

Publication type:

Article

CNS-directed gene therapy for lysosomal storage diseases.

Published in:

Acta Paediatrica, 2008, p. 22, doi. 10.1111/j.1651-2227.2008.00660.x

By:

Sands, Mark S.;
Haskins, Mark E.

Publication type:

Article

Drug delivery for neuronopathic lysosomal storage diseases: evolving roles of the blood brain barrier and cerebrospinal fluid.

Published in:

2022

By:

Sato, Yuji;
Minami, Kohtaro;
Hirato, Toru;
Tanizawa, Kazunori;
Sonoda, Hiroyuki;
Schmidt, Mathias

Publication type:

Literature Review

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases.

Published in:

Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 149, doi. 10.1002/mdc3.12573

By:

Davis, Peter E.;
Anselm, Irina;
Ebrahimi‐Fakhari, Darius;
Hildebrandt, Clara;
Rodan, Lance H.;
Bodamer, Olaf

Publication type:

Article

The Underexploited Role of Non-Coding RNAs in Lysosomal Storage Diseases.

Published in:

Frontiers in Endocrinology, 2016, p. 1, doi. 10.3389/fendo.2016.00133

By:

de Queiroz, Matheus Trovão;
Pereira, Vanessa Gonçalves;
do Nascimento, Cinthia Castro;
D'Almeida, Vânia

Publication type:

Article

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.

Published in:

Genes, 2021, v. 12, n. 11, p. 1750, doi. 10.3390/genes12111750

By:

La Cognata, Valentina;
Cavallaro, Sebastiano

Publication type:

Article

Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.

Published in:

Children, 2024, v. 11, n. 6, p. 668, doi. 10.3390/children11060668

By:

Montanari, Chiara;
Tagi, Veronica Maria;
D'Auria, Enza;
Guaia, Vincenzo;
Di Gallo, Anna;
Ghezzi, Michele;
Verduci, Elvira;
Fiori, Laura;
Zuccotti, Gianvincenzo

Publication type:

Article

Therapeutic Approaches in Lysosomal Storage Diseases.

Published in:

Biomolecules (2218-273X), 2021, v. 11, n. 12, p. 1775, doi. 10.3390/biom11121775

By:

Fernández-Pereira, Carlos;
San Millán-Tejado, Beatriz;
Gallardo-Gómez, María;
Pérez-Márquez, Tania;
Alves-Villar, Marta;
Melcón-Crespo, Cristina;
Fernández-Martín, Julián;
Ortolano, Saida

Publication type:

Article

Oral health status of Egyptian children with lysosomal storage diseases: An evaluation of dental indices, salivary cytokines level, and bacterial bioburden.

Published in:

International Journal of Paediatric Dentistry, 2025, v. 35, n. 1, p. 155, doi. 10.1111/ipd.13216

By:

Matar, Moustafa A.;
Selima, Rana A.;
Marzouk, Iman M.;
Lotfy, Walid A.;
Al‐Shafie, Tamer A.;
Darwish, Sherif S.

Publication type:

Article

Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review.

Published in:

2017

By:

Fagan, Nathan;
Alexander, Allen;
Irani, Neville;
Saade, Charbel;
Naffaa, Lena;
Alexander, Alan

Publication type:

journal article

Functional Correction of CNS Phenotypes in a Lysosomal Storage Disease Model Using Adeno-Associated Virus Type 4 Vectors.

Published in:

Journal of Neuroscience, 2005, v. 25, n. 41, p. 9321, doi. 10.1523/JNEUROSCI.2936-05.2005

By:

Gumei Liu;
Martins, Inês;
Wemmie, John A.;
Chiorini, John A.;
Davidson, Beverly L.

Publication type:

Article

Abbreviation of Desensitization Protocol for Pediatric Patients with Lysosomal Storage Diseases Receiving Enzyme Replacement Therapy.

Published in:

International Archives of Allergy & Immunology, 2024, v. 185, n. 12, p. 1226, doi. 10.1159/000539597

By:

Yörüsün, Gökhan;
Yilmaz Topal, Özge;
Şengül Emeksiz, Zeynep;
Küçükçongar Yavaş, Aynur;
Kasapkara, Çiğdem Seher;
Dibek Mısırlıoğlu, Emine

Publication type:

Article

Sphingolipid lysosomal storage diseases: from bench to bedside.

Published in:

2021

By:

Abed Rabbo, Muna;
Khodour, Yara;
Kaguni, Laurie S.;
Stiban, Johnny

Publication type:

Literature Review

Polymer Capsules as a Theranostic Tool for a Universal In Vitro Screening Assay-The Case of Lysosomal Storage Diseases.

Published in:

Particle & Particle Systems Characterization, 2015, v. 32, n. 11, p. 991, doi. 10.1002/ppsc.201500156

By:

Nazarenus, Moritz;
Abasolo, Ibane;
García‐Aranda, Natalia;
Voccoli, Vladimir;
Rejman, Joanna;
Cecchini, Marco;
Schwartz, Simó;
Rivera_Gil, Pilar;
Parak, Wolfgang J.

Publication type:

Article

Early Onset of Lysosomal Storage Disease in a Murine Model of Mucopolysaccharidosis Type VII: Undegraded Substrate Accumulates in Many Tissues in the Fetus and Very Young MPS VII Mouse.

Published in:

Pediatric & Developmental Pathology, 2005, v. 8, n. 4, p. 453, doi. 10.1007/s10024-005-0025-8

By:

Vogler, Carole;
Levy, Beth;
Galvin, Nancy;
Lessard, Mark;
Soper, Brian;
Barker, Jane

Publication type:

Article

False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 17, doi. 10.4274/jpr.33042

By:

Sözmen, Eser Yıldırım;
Dondurmacı, Meral;
Uçar, Sema Kalkan;
Çoker, Mahmut

Publication type:

Article

The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders.

Published in:

Antibiotics (2079-6382), 2023, v. 12, n. 1, p. 122, doi. 10.3390/antibiotics12010122

By:

Bruno, Francesco;
Camuso, Serena;
Capuozzo, Elisabetta;
Canterini, Sonia

Publication type:

Article

An Overview of Enzyme Replacement Therapy for Lysosomal Storage Diseases.

Published in:

Online Journal of Issues in Nursing, 2008, v. 13, n. 1, p. 4, doi. 10.3912/ojin.vol13no01man03

By:

Bailey, Laurie

Publication type:

Article

Protein Aggregation and Dysfunction of Autophagy-Lysosomal Pathway: A Vicious Cycle in Lysosomal Storage Diseases.

Published in:

Frontiers in Molecular Neuroscience, 2020, p. 1, doi. 10.3389/fnmol.2020.00037

By:

Monaco, Antonio;
Fraldi, Alessandro

Publication type:

Article

Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 10064, doi. 10.3390/ijms221810064

By:

La Cognata, Valentina;
Guarnaccia, Maria;
Morello, Giovanna;
Ruggieri, Martino;
Polizzi, Agata;
Cavallaro, Sebastiano

Publication type:

Article

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5732, doi. 10.3390/ijms21165732

By:

Coutinho, Maria Francisca;
Santos, Juliana Inês;
S. Mendonça, Liliana;
Matos, Liliana;
Prata, Maria João;
S. Jurado, Amália;
Pedroso de Lima, Maria C.;
Alves, Sandra

Publication type:

Article

Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 247, doi. 10.3390/ijms19010247

By:

Moskot, Marta;
Bocheńska, Katarzyna;
Jakóbkiewicz-Banecka, Joanna;
Banecki, Bogdan;
Gabig-Cimińska, Magdalena

Publication type:

Article

From Lysosomal Storage Diseases to NKT Cell Activation and Back.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 502, doi. 10.3390/ijms18030502

By:

Pereira, Cátia S.;
Ribeiro, Helena;
Macedo, M. Fatima

Publication type:

Article

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1465, doi. 10.3390/jcm13051465

By:

Jerves Serrano, Teodoro;
Gold, Jessica;
Cooper, James A.;
Church, Heather J.;
Tylee, Karen L.;
Wu, Hoi Yee;
Kim, Sun Young;
Stepien, Karolina M.

Publication type:

Article

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 616, doi. 10.3390/jcm9030616

By:

Pará, Camila;
Bose, Poulomee;
Pshezhetsky, Alexey V.

Publication type:

Article

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.

Published in:

Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081836

By:

La Cognata, Valentina;
Cavallaro, Sebastiano

Publication type:

Article

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Published in:

2020

By:

Chien, Yin-Hsiu;
Lee, Ni-Chung;
Chen, Pin-Wen;
Yeh, Hui-Ying;
Gelb, Michael H.;
Chiu, Pao-Chin;
Chu, Shao-Yin;
Lee, Chen-Hao;
Lee, An-Ru;
Hwu, Wuh-Liang

Publication type:

journal article

Human CD34<sup>+</sup> hematopoietic progenitor cell-directed lentiviral-mediated gene therapy in a xenotransplantation model of lysosomal storage disease

Published in:

Molecular Therapy, 2004, v. 9, n. 6, p. 856, doi. 10.1016/j.ymthe.2004.03.013

By:

Hofling, A. Alex;
Devine, Steven;
Vogler, Carole;
Sands, Mark S.

Publication type:

Article

A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.

Published in:

Diseases, 2017, v. 5, n. 1, p. 6, doi. 10.3390/diseases5010006

By:

Christensen, Chloe L.;
Choy, Francis Y. M.

Publication type:

Article

c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors.

Published in:

Antioxidants, 2025, v. 14, n. 5, p. 611, doi. 10.3390/antiox14050611

By:

Guerra, Miguel V.;
Castro, Juan;
Moreno, Antonio;
Balboa, Elisa;
Marugan, Juan J.;
Alvarez, Alejandra R.;
Zanlungo, Silvana

Publication type:

Article