Works matching DE "LYSOSOMAL storage diseases"

Results: 2931

Fabry disease, do we think enough about this multisystemic disorder? -- A presentation of three cases in a Serbian family.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2012, v. 69, n. 7, p. 620, doi. 10.2298/VSP1207620S

By:

Sakač, Dejan;
Koraćević, Goran;
Pavlica, Tatjana;
Sekulić, Slobodan

Publication type:

Article

Perioperative management of patients with Mucolipidosis II and III: Lessons from a case series.

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 3, p. 260, doi. 10.1111/pan.14090

By:

Scott‐Warren, Victoria Louise;
Walker, Rob

Publication type:

Article

Anesthetic management of pediatric patients with Niemann‐Pick disease type C for intrathecal 2‐hydroxypropyl‐β‐cyclodextrin injection.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 7, p. 766, doi. 10.1111/pan.13902

By:

Ulloa, Morgan L.;
Froyshteter, Alexander B.;
Kret, Lauren N.;
Chang, Denise P.;
Sarah, Gabriel E.;
McCarthy, Robert J.;
Barnes, Steve D.;
Berry‐Kravis, Elizabeth M.;
Veyckemans, Francis

Publication type:

Article

Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 2, p. 181, doi. 10.1111/pan.13787

By:

Dohrmann, Thorsten;
Muschol, Nicole M.;
Sehner, Susanne;
Punke, Mark A.;
Haas, Sebastian A.;
Roeher, Katharina;
Breyer, Sandra;
Koehn, Anja F.;
Ullrich, Kurt;
Zöllner, Christian;
Petzoldt, Martin;
Veyckemans, Francis

Publication type:

Article

Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management.

Published in:

Pediatric Anesthesia, 2012, v. 22, n. 8, p. 745, doi. 10.1111/j.1460-9592.2012.03897.x

By:

Kirkpatrick, Katherine;
Ellwood, James;
Walker, Robert W. M.

Publication type:

Article

Anesthesia for Fucosidosis.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 10, p. 994, doi. 10.1111/j.1460-9592.2007.02269.x

By:

ABDALLAH, CLAUDE;
HANNALLAH, RAAFAT;
MCGILL, WILLIS

Publication type:

Article

Sedation for children with metachromatic leukodystrophy undergoing MRI.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 1, p. 64, doi. 10.1111/j.1460-9592.2006.02002.x

By:

MATTIOLI, CRISTINA;
GEMMA, MARCO;
BALDOLI, CRISTINA;
SESSA, MARIA;
ALBERTIN, ANDREA;
BERETTA, LUIGI

Publication type:

Article

Bone manifestations of Gaucher's disease in Mexican patients.

Published in:

Acta Ortopédica Mexicana, 2010, v. 24, n. 5, p. 349

By:

Blass-Jaimes, P.

Publication type:

Article

Manifestaciones óseas en enfermedad de Gaucher entre pacientes mexicanos.

Published in:

Acta Ortopédica Mexicana, 2010, v. 24, n. 5, p. 351

By:

Blass-Jaimes, P.

Publication type:

Article

Enfermedad de Gaucher neuronopática tipo III. Revisión de la literatura y presentación de un caso tratado con enzima recombinante humana.

Published in:

Revista Mexicana de Neurociencia, 2007, v. 8, n. 3, p. 261

By:

de Lourdes, Llamosa García Velásquez Gloria;
Navarrete Martínez Juana Inés;
Irene, Rivera Salgado;
María, Vicuña González Rosa

Publication type:

Article

Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.

Published in:

Analytical & Bioanalytical Chemistry, 2009, v. 394, n. 7, p. 1903, doi. 10.1007/s00216-009-2879-5

By:

Zhen-Dan Shi;
Motabar, Omid;
Goldin, Ehud;
Ke Liu;
Southall, Noel;
Sidransky, Ellen;
Austin, Christopher P.;
Griffiths, Gary L.;
Wei Zheng

Publication type:

Article

α-Galactosidase A-Tat Fusion Enhances Storage Reduction in Hearts and Kidneys of Fabry Mice.

Published in:

Molecular Medicine, 2010, v. 16, n. 5/6, p. 216, doi. 10.2119/molmed.2009.00163

By:

Higuchi, Koji;
Yoshimitsu, Makoto;
Xin Fan;
Xiaoxin Guo;
Rasaiah, Vanessa I.;
Yen, Jennifer;
Tei, Chuwa;
Takenaka, Toshihiro;
Medin, Jeffrey A.

Publication type:

Article

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 488, doi. 10.1007/s00335-025-10121-3

By:

Marcó, Sara;
Muñoz, Sergio;
Bosch, Fatima;
Jimenez, Veronica

Publication type:

Article

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female (Communicated by Robert Desnick) Online Citation: Human Mutation, Mutation in Brief #643 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258

By:

Adriana Rodríguez-Marí;
M. José Coll;
Amparo Chabás

Publication type:

Article

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous femaleCommunicated by Robert DesnickOnline Citation: Human Mutation, Mutation in Brief #643 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258

By:

Adriana Rodríguez?Marí;
M. José Coll;
Amparo Chabás

Publication type:

Article

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

Published in:

Clinical Rheumatology, 2014, v. 33, n. 5, p. 725, doi. 10.1007/s10067-013-2423-z

By:

Jurecka, Agnieszka;
Zakharova, Ekaterina;
Malinova, Vera;
Voskoboeva, Elena;
Tylki-Szymańska, Anna

Publication type:

Article

Awareness of Fabry disease among rheumatologists-current status and perspectives.

Published in:

Clinical Rheumatology, 2011, v. 30, n. 4, p. 467, doi. 10.1007/s10067-010-1445-z

By:

Cimaz, Rolando;
Guillaume, Severine;
Hilz, Max;
Horneff, Gerd;
Manger, Bernhard;
Thorne, J.;
Torvin Møller, Anette;
Wulffraat, Nico;
Roth, Johannes

Publication type:

Article

Legg–Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report.

Published in:

2007

By:

Melikoglu, Meltem Alkan;
Kocabas, Hilal;
Sezer, Ilhan;
Çay, Hasan Fatih;
Cassidy, Aysegul Guller;
Balci, Nilufer

Publication type:

Report

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

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3).

Published in:

Molecules, 2021, v. 26, n. 23, p. 7358, doi. 10.3390/molecules26237358

By:

Perrone, Alessandro;
Mohamed, Susan;
Donadio, Vincenzo;
Liguori, Rocco;
Contin, Manuela

Publication type:

Article

Pharmacological Chaperone Therapy for Pompe Disease.

Published in:

Molecules, 2021, v. 26, n. 23, p. 7223, doi. 10.3390/molecules26237223

By:

Borie-Guichot, Marc;
Tran, My Lan;
Génisson, Yves;
Ballereau, Stéphanie;
Dehoux, Cécile

Publication type:

Article

Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.

Published in:

Molecules, 2021, v. 26, n. 20, p. 6235, doi. 10.3390/molecules26206235

By:

Morsy, Ahmed;
Carmona, Angelica V.;
Trippier, Paul C.

Publication type:

Article

Synthesis of "All-Cis" Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors.

Published in:

Molecules, 2020, v. 25, n. 19, p. 4526, doi. 10.3390/molecules25194526

By:

Davighi, Maria Giulia;
Clemente, Francesca;
Matassini, Camilla;
Morrone, Amelia;
Goti, Andrea;
Martínez-Bailén, Macarena;
Cardona, Francesca;
Piantanida, Ivo;
Csuk, René;
Jacob, Claus;
Oyelere, Adegboyega K.

Publication type:

Article

Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine.

Published in:

Molecules, 2020, v. 25, n. 17, p. 4025, doi. 10.3390/molecules25174025

By:

Weber, Patrick;
Thonhofer, Martin;
Averill, Summer;
Davies, Gideon J.;
Santana, Andres Gonzalez;
Müller, Philipp;
Nasseri, Seyed A.;
Offen, Wendy A.;
Pabst, Bettina M.;
Paschke, Eduard;
Schalli, Michael;
Torvisco, Ana;
Tschernutter, Marion;
Tysoe, Christina;
Windischhofer, Werner;
Withers, Stephen G.;
Wolfsgruber, Andreas;
Wrodnigg, Tanja M.;
Stütz, Arnold E.;
Somsák, László

Publication type:

Article

Second-Generation Pharmacological Chaperones: Beyond Inhibitors.

Published in:

Molecules, 2020, v. 25, n. 14, p. 3145, doi. 10.3390/molecules25143145

By:

Tran, My Lan;
Génisson, Yves;
Ballereau, Stéphanie;
Dehoux, Cécile;
Skouta, Rachid

Publication type:

Article

Development of Organelle Replacement Therapy Using a Stearyl-Polyhistidine Peptide against Lysosomal Storage Disease Cells.

Published in:

Molecules, 2019, v. 24, n. 16, p. 2995, doi. 10.3390/molecules24162995

By:

Hayashi, Taiki;
Okamoto, Riku;
Kawano, Tsuyoshi;
Iwasaki, Takashi

Publication type:

Article

Cucurbitacin B Induces the Lysosomal Degradation of EGFR and Suppresses the CIP2A/PP2A/Akt Signaling Axis in Gefitinib-Resistant Non-Small Cell Lung Cancer.

Published in:

Molecules, 2019, v. 24, n. 3, p. 647, doi. 10.3390/molecules24030647

By:

Liu, Pengfei;
Xiang, Yuchen;
Liu, Xuewen;
Zhang, Te;
Yang, Rui;
Chen, Sen;
Xu, Li;
Yu, Qingqing;
Zhao, Huzi;
Zhang, Liang;
Liu, Ying;
Si, Yuan

Publication type:

Article

Hyperbaric Oxygen Treatment Restores Sudden Hearing Loss in a Patient with Fabry Disease.

Published in:

ORL (0301-1569), 2008, v. 70, n. 3, p. 210, doi. 10.1159/000124297

By:

Frantz, Markus C.;
Pontz, Bertram F.;
Arnold, Wolfgang

Publication type:

Article

Multiple Roles of Autophagy in the Sorafenib Resistance of Hepatocellular Carcinoma.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2017, v. 44, n. 2, p. 716, doi. 10.1159/000485285

By:

Sun, Ting;
Liu, Hongchun;
Ming, Liang

Publication type:

Article

Role of Vacuolar ATPase in the Trafficking of Renal Type IIa Sodium-phosphate Cotransporter.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2011, v. 27, n. 6, p. 703, doi. 10.1159/000330079

By:

Ahmad, Aamir;
Khundmiri, Syed J.;
Pribble, Francesca;
Merchant, Michael L.;
Ameen, Mohammed;
Klein, Jon B.;
Levi, Moshe;
Lederer, Eleanor D.

Publication type:

Article

A robust computational pipeline for model-based and data-driven phenotype clustering.

Published in:: Bioinformatics, 2021, v. 37, n. 9, p. 1269, doi. 10.1093/bioinformatics/btaa948
Publication type:: Article

Seasonal cycle of lysosomal enzyme activities in the mantle tissue and isolated cells from the mussel Mytilus edulis.

Published in:

Marine Biology, 1990, v. 104, n. 3, p. 403, doi. 10.1007/BF01314343

By:

Peek, K.;
Gabbott, P.

Publication type:

Article

Progression of electrocardiogram changes in an untreated fabry disease: a case report.

Published in:

2021

By:

Mattig, Isabel;
Canaan-Kühl, Sima;
Tillmanns, Christoph;
Knebel, Fabian

Publication type:

Case Study

Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson–Fabry disease: a case series.

Published in:

2021

By:

Tomioka, Daisuke;
Kato, Koichi;
Ozawa, Tomoya;
Kodama, Kenji;
Takahashi, Hiroaki;
Dochi, Kenichi;
Ueno, Yoshiki;
Nakagawa, Yoshihisa

Publication type:

Case Study

Ventricular tachycardia: a presentation of Fabry disease case report.

Published in:

2019

By:

Pavlu, Ludek;
Kocourkova, Lenka;
Taborsky, Milos;
Petrkova, Jana

Publication type:

Case Study

MUCOPOLYSACCHARIDOSES (MPS) IN DOMESTIC DOG (CANIS LUPUS FAMILIARIS). PART I. CHARACTERIZATION OF TYPES OF MUCOPOLYSACCHARIDOSES.

Published in:

Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura Alimentaria Piscaria et Zootechnica, 2024, v. 372, n. 71, p. 28, doi. 10.21005/AAPZ2024.71.3.3

By:

GRUSZCZYŃSKA, Joanna;
KONIECKIEWICZ, Kinga;
ŁYSZKOWSKA, Gabriela;
JUNDZIŁŁ-BOGUSIEWICZ, Paulina;
BORS, Milena;
JABŁOŃSKA, Weronika;
GRZEGRZÓŁKA, Beata

Publication type:

Article

Vrozená kožní melanocytóza u vietnamského novorozence s lymfangiomem.

Published in:

Pediatrie pro Praxi, 2023, v. 24, n. 3, p. 197

By:

Mihál, Vladimír;
Moškořová, Veronika;
Kalivodová, Markéta

Publication type:

Article

Variants of LYST and Novel STK4 Gene Mutation in a Child With Accelerated Chediak Higashi Syndr.

Published in:

2024

By:

Bakar, Asrar Abu;
Shunmugarajoo, Haema;
Nachiappan, Jeyaseelan P.;
Ismail, Intan Hakimah

Publication type:

Case Study

Autonomic skin responses in females with Fabry disease.

Published in:

Journal of the Peripheral Nervous System, 2009, v. 14, n. 3, p. 159, doi. 10.1111/j.1529-8027.2009.00227.x

By:

Møller, Anette T.;
Bach, Flemming W.;
Feldt-Rasmussen, Ulla;
Rasmussen, Åse K.;
Hasholt, Lis;
Sommer, Claudia;
Kølvraa, Steen;
Jensen, Troels Staehelin

Publication type:

Article

Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin.

Published in:

Journal of the Peripheral Nervous System, 2006, v. 11, n. 2, p. 119, doi. 10.1111/j.1085-9489.2006.00076.x

By:

Moller, Anette T.;
Feldt-Rasmussen, Ulla;
Rasmussen, Åse K.;
Sommer, Claudia;
Hasholt, Lis;
Bach, Flemming W.;
Kølvraa, Steen;
Jensen, Troels S.

Publication type:

Article

No association of Gaucher disease with COVID‐19‐related outcomes: a nationwide cohort study.

Published in:

Internal Medicine Journal, 2022, v. 52, n. 3, p. 379, doi. 10.1111/imj.15673

By:

Demirci, Ibrahim;
Demir, Tevfik;
Dagdelen, Selcuk;
Haymana, Cem;
Tasci, Ilker;
Atmaca, Aysegul;
Ertugrul, Derun;
Ata, Naim;
Sahin, Mustafa;
Salman, Serpil;
Sahin, Ibrahim;
Emral, Rifat;
Unluturk, Ugur;
Cakal, Erman;
Celik, Osman;
Caglayan, Murat;
Satman, Ilhan;
Sonmez, Alper

Publication type:

Article

Impact of SARS‐CoV‐2 (COVID‐19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre.

Published in:

Internal Medicine Journal, 2021, v. 51, n. 10, p. 1580, doi. 10.1111/imj.15473

By:

Ramaswami, Uma;
D'Amore, Simona;
Finnegan, Niamh;
Hughes, Derralynn;
Kazemi, Masoud

Publication type:

Article

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

Anesthetic Management of 2 Cases with Mucopolysaccaridosis Type VI (Maroteaux-Lamy Syndrome) and Mucoopolisacharidosis Type II (Hunter Syndrome).

Published in:

Journal of Anesthesia / Anestezi Dergisi (JARSS), 2023, v. 31, p. 190

By:

Bektaş, Meltem;
Uysal, Hale Yarkan;
Büyükyıldız, Tuğçe Merve

Publication type:

Article

Caracterización demográfica, clínica, paraclínica y molecular de pacientes con enfermedad de Gaucher tipo 1 en el Suroccidente Colombiano.

Published in:

Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2024, v. 1, n. 36, p. 57, doi. 10.47499/revistaaccb.v1i36.308

By:

Arturo-Terranova, Daniela;
Moreno Giraldo, Lina Johanna;
Satizabal Soto, José María

Publication type:

Article

Innovative mechanisms of pre-marketing authorization access for rare diseases in Brazil: a case study of pabinafusp-alfa for mucopolysaccharidosis type II.

Published in:

JBES: Brazilian Journal of Health Economics / Jornal Brasileiro de Economia da Saúde, 2023, v. 15, n. 1, p. 67, doi. 10.21115/JBES.v15.n1.p67-70

By:

Falavigna, Maicon;
Borges Migliavaca, Celina;
Tanaka, Elio;
Santos, Marcos

Publication type:

Article

Results of an Ophthalmologic Screening Programme for Identification of Cases with Anderson-Fabry Disease.

Published in:

Ophthalmologica, 2004, v. 218, n. 3, p. 207, doi. 10.1159/000076846

By:

A.-C. Hauser;
M. Lorenz;
T. Voigtländer;
M. Födinger;
G. Sunder-Plassmann

Publication type:

Article

The heart in Fabry's disease.

Published in:

Cardiologia Croatica, 2019, v. 14, n. 3/4, p. 64, doi. 10.15836/ccar2019.64

By:

Skorup, Lea;
Romić, Ivana Grgić;
Šimić, Jelena;
Vujičić, Božidar;
Rački, Sanjin;
Ružić, Alen;
Zaputović, Luka;
Matana, Ante;
Jurjević, Teodora Zaninović

Publication type:

Article

TFEB overexpression alleviates autophagy-lysosomal deficits caused by progranulin insufficiency.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-12268-0

By:

Nader, Wren O.;
Brown, Kaylan S.;
Boyle, Nicholas R.;
Kaplelach, Azariah K.;
Abdelaziz, Shaimaa M.;
Davis, Skylar E.;
Aljabi, Qays;
Hakim, Ahmad R.;
Davidson, Amelia G.;
Vollmer, Giacynta A.;
Wright, Leah C.;
Echols, J. Bailey;
Saad, Joelle;
Pena, Nicholas S.;
Arrant, Andrew E.

Publication type:

Article

CLN3 disease disrupts very early postnatal hippocampal maturation.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-02010-1

By:

Singh, Jeet B.;
Burris, Devin M.;
Bhuyan, Sangeetha;
Thurston, Tegan;
Oschmann, Anna;
Jankowski, Connor;
Lu, Wenyun;
Rabinowitz, Joshua D.;
Ahrens-Nicklas, Rebecca C.

Publication type:

Article