Works matching DE "ENZYME replacement therapy"

Results: 511

A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant.

Published in:

Epileptic Disorders, 2024, v. 26, n. 3, p. 392, doi. 10.1002/epd2.20204

By:

Üçem, Selen;
Avcı, Şahin;
Gürses, Candan

Publication type:

Article

Effects of Pancreatin therapy on Gastrointestinal Symptoms in Patients with Type 2 Diabetes Mellitus.

Published in:

Anatolian Journal of Family Medicine, 2020, v. 3, n. 3, p. 229, doi. 10.14744/anatoljfm.2020.25349

By:

Dabak, Reşat;
Şimşek, Engin Ersin;
Tüzün, Sabah;
Öner, Can;
Tamer, İsmet;
Orbay, Ekrem;
Bayramiçli, Oya

Publication type:

Article

Hereditary pancreatitis in children: insights and advances from the last 10 years.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2025, v. 74, n. 1, p. 71, doi. 10.37897/RJP.2025.1.10

By:

Dragu, Corina;
Coroleuca, Alexandra;
Pacurar, Daniela;
Becheanu, Cristina;
Badarau, Anca Ioana

Publication type:

Article

Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the US.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03812-2

By:

Wallace, Eric;
Laney, Dawn;
Warsi, Ibrahim;
Baldwin, Connie;
Johnson, Jack;
Kupferman, Joseph;
DasMahapatra, Pronabesh;
Lyn, Nicole

Publication type:

Article

Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03690-8

By:

Akyüz, Ayşe;
İnci, Aslı;
Okur, İlyas;
Tümer, Leyla;
Ezgü, Fatih Süheyl

Publication type:

Article

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5037, doi. 10.3390/ijms26115037

By:

Teker, Betül;
Akan, Gökce;
Kazan, Hasan Hüseyin;
Özgen, Özge;
Tatonyan, Suzin;
Balci, Mehmet Cihan;
Karaca, Meryem;
Kurekci, Fulya;
Yıldız, Edibe Pembegül;
Güngor, Olcay;
Deniz, Adnan;
Gedikbasi, Asuman;
Atalar, Fatmahan;
Gokcay, Gülden Fatma;
Poda, Mehves

Publication type:

Article

How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases?

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03844-8

By:

Spataro, Federico;
Solimando, Antonio Giovanni;
Desantis, Vanessa;
Vacca, Angelo;
Di Girolamo, Attilio;
Ria, Roberto

Publication type:

Article

Exploring Multivalent Architectures for Binding and Stabilization of N -Acetylgalactosamine 6-Sulfatase.

Published in:

Molecules, 2025, v. 30, n. 10, p. 2222, doi. 10.3390/molecules30102222

By:

Davighi, Maria Giulia;
Clemente, Francesca;
D'Adamio, Giampiero;
Martínez-Bailén, Macarena;
Morano, Alessio;
Goti, Andrea;
Morrone, Amelia;
Matassini, Camilla;
Cardona, Francesca

Publication type:

Article

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4940, doi. 10.3390/ijms26104940

By:

Ago, Yasuhiko;
Khan, Shaukat;
Klipner, Kimberly;
Bradford, Allison;
Tomatsu, Shunji

Publication type:

Article

Improved Nutritional Outcomes and Gastrointestinal Symptoms in Adult Cystic Fibrosis Patients Treated with Elexacaftor/Tezacaftor/Ivacaftor.

Published in:

Digestive Diseases, 2024, v. 42, n. 4, p. 361, doi. 10.1159/000538606

By:

Stastna, Nela;
Kunovsky, Lumir;
Svoboda, Michal;
Pokojova, Eva;
Homola, Lukas;
Mala, Miriam;
Gracova, Zaneta;
Jerabkova, Barbora;
Skrickova, Jana;
Trna, Jan

Publication type:

Article

Gaucher disease: Recent advances in the diagnosis and management.

Published in:

Medical Journal of Viral Hepatitis, 2022, v. 6, n. 2, p. 6

By:

Hassanin, Fetouh;
Abbas, Azza Hasan;
Schalaan, Mona;
Rabea, Mohamed

Publication type:

Article

Cardiac affection in lysosomal storage disorders and effect of enzyme replacement therapy.

Published in:

Alexandria Journal of Pediatrics, 2024, v. 37, n. 1, p. 29, doi. 10.4103/ajop.ajop_6_24

By:

Mokhtar, Wesam A.;
Omar, Nariman F.;
Niazy, Asmaa M.M.;
Ali, Alshymaa A.

Publication type:

Article

Pancreatic insufficiency after gastrectomy: an underdiagnosed condition?

Published in:

ANZ Journal of Surgery, 2024, v. 94, n. 10, p. 1674, doi. 10.1111/ans.19204

By:

McVeay, Christina;
Davis, Caitlin A.;
Thompson, Sarah K.

Publication type:

Article

Advances in the Molecular Etiology of Severe Combined Immunodeficiency and Its Screening.

Published in:

Turkish Journal of Immunology, 2023, v. 11, n. 1, p. 1, doi. 10.4274/tji.galenos.2023.29491

By:

Mahapatra, Ananya;
Verma, Henu Kumar;
Nag, Sagorika;
Singh, Santosh;
Khattri, Arun;
Bhaskar, L. V. K. S.

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

Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases.

Published in:

2025

By:

Lerussi, Giovanni;
Villagrasa-Araya, Verónica;
Moltó-Abad, Marc;
del Toro, Mireia;
Pintos-Morell, Guillem;
Seras-Franzoso, Joaquin;
Abasolo, Ibane

Publication type:

Literature Review

Anderson–Fabry Disease: Focus on Ophthalmological Implications.

Published in:

Life (2075-1729), 2024, v. 14, n. 12, p. 1531, doi. 10.3390/life14121531

By:

Giovannetti, Francesca;
D'Andrea, Mattia;
Bracci, Federico;
Frustaci, Andrea;
Chimenti, Cristina;
Mangiantini, Pietro;
Lambiase, Alessandro;
Marenco, Marco

Publication type:

Article

Inhibition Effect of Pancreatic Exocrine Insufficiency on Immune Checkpoint Inhibitor Treatment in Pancreatic Cancer: A Retrospective Study.

Published in:

ImmunoTargets & Therapy, 2024, v. 13, p. 45, doi. 10.2147/ITT.S442247

By:

Luo, Qiankun;
Dong, Yifei;
Liu, Pan;
He, Chao;
Chen, Lei;
Zhang, Kailun;
Pan, Changjie;
Gao, Yahui;
Qin, Tao

Publication type:

Article

Globoid Cell Leukodystrophy (Krabbe Disease): An Update.

Published in:

ImmunoTargets & Therapy, 2023, v. 12, p. 105, doi. 10.2147/ITT.S424622

By:

Maghazachi, Azzam A

Publication type:

Article

Fabry disease and sleep disorders: a systematic review.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1217618

By:

Blaszczyk, Bartlomiej;
Wieckiewicz, Mieszko;
Kusztal, Mariusz;
Michalek-Zrabkowska, Monika;
Lachowicz, Gabriella;
Mazur, Grzegorz;
Martynowicz, Helena

Publication type:

Article

Enzyme Replacement and Immunosuppression in Heart Transplant Recipients with Fabry Cardiomyopathy: A 7-Year Case Study.

Published in:

2025

By:

Muras-Szwedziak, Katarzyna;
Wójcik, Maciej;
Wojtyczka, Olga;
Kaczmarek, Krzysztof

Publication type:

Case Study

Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.

Published in:

2025

By:

Peng, Mei-Ling;
Chau, Siu-Fung;
Chien, Jia-Ying;
Woon, Peng-Yeong;
Chen, Yu-Chen;
Cheang, Wai-Man;
Tsai, Hsien-Yang;
Huang, Shun-Ping

Publication type:

Literature Review

Advancements in Viral Gene Therapy for Gaucher Disease.

Published in:

Genes, 2024, v. 15, n. 3, p. 364, doi. 10.3390/genes15030364

By:

Kulkarni, Akhil;
Chen, Tiffany;
Sidransky, Ellen;
Han, Tae-Un

Publication type:

Article

Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.

Published in:

Genes, 2024, v. 15, n. 1, p. 37, doi. 10.3390/genes15010037

By:

Izhar, Raafiah;
Borriello, Margherita;
La Russa, Antonella;
Di Paola, Rossella;
De, Ananya;
Capasso, Giovambattista;
Ingrosso, Diego;
Perna, Alessandra F.;
Simeoni, Mariadelina

Publication type:

Article

Metabolic Myopathies in the Era of Next-Generation Sequencing.

Published in:

Genes, 2023, v. 14, n. 5, p. 954, doi. 10.3390/genes14050954

By:

Urtizberea, Jon Andoni;
Severa, Gianmarco;
Malfatti, Edoardo

Publication type:

Article

Treatment Dilemma in Children with Late-Onset Pompe Disease.

Published in:

Genes, 2023, v. 14, n. 2, p. 362, doi. 10.3390/genes14020362

By:

Faraguna, Martha Caterina;
Crescitelli, Viola;
Fornari, Anna;
Barzaghi, Silvia;
Savasta, Salvatore;
Foiadelli, Thomas;
Veraldi, Daniele;
Paoletti, Matteo;
Pichiecchio, Anna;
Gasperini, Serena

Publication type:

Article

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.

Published in:

Genes, 2022, v. 13, n. 8, p. 1293, doi. 10.3390/genes13081293

By:

Pillai, Nishitha R.;
Ahmed, Alia;
Vanyo, Todd;
Whitley, Chester B.

Publication type:

Article

Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes.

Published in:

Genes, 2022, v. 13, n. 4, p. 593, doi. 10.3390/genes13040593

By:

Cyske, Zuzanna;
Gaffke, Lidia;
Pierzynowska, Karolina;
Węgrzyn, Grzegorz

Publication type:

Article

MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease.

Published in:

Genes, 2021, v. 12, n. 8, p. 1184, doi. 10.3390/genes12081184

By:

Maier, Nadine;
Gatterer, Constantin;
Haider, Patrick;
Salzmann, Manuel;
Kaun, Christoph;
Speidl, Walter S.;
Sunder-Plassmann, Gere;
Podesser, Bruno K.;
Wojta, Johann;
Graf, Senta;
Lenz, Max;
Hohensinner, Philipp J.

Publication type:

Article

Effect of Asfotase Alfa in the Treatment of Hypophosphatasia- A Systematic Review.

Published in:

Journal of Pharmacy & Bioallied Sciences, 2023, v. 15, p. S101, doi. 10.4103/jpbs.jpbs_662_22

By:

Jaswanthi N.;
Sindhu R.;
Nimmy P.;
Prabu D.;
RajMohan M.;
Bharathwaj V. V.;
Dhamodhar, Dinesh;
Sathiyapriya S.

Publication type:

Article

Fabry Disease: Current scenario in India using herbal plants.

Published in:

Allelopathy Journal, 2023, v. 59, n. 2, p. 239, doi. 10.26651/allelo.j/2023-59-2-1446

By:

Singh, Sandhya;
Mazumder, Avijit;
Pentela, Bhavani;
Prabhakar, Vishnu

Publication type:

Article

Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick.

Published in:

Nefrologia, 2024, v. 44, n. 2, p. 217, doi. 10.1016/j.nefro.2023.01.002

By:

Ozer, Hakan;
Balogl, Ismail;
Topkac, Ali;
Ozturk, Yasin;
Yonet, Fethi;
Daglı, Furkan;
Kilinc, Ibrahim;
Turkmen, Kultigin

Publication type:

Article

Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.

Published in:

Nefrologia, 2021, v. 41, n. 6, p. 652, doi. 10.1016/j.nefroe.2022.01.003

By:

Goicoechea, Marian;
Gomez-Preciado, Francisco;
Benito, Silvia;
Torras, Joan;
Torra, Roser;
Huerta, Ana;
Restrepo, Alejandra;
Ugalde, Jessica;
Astudillo, Daniela Estefania;
Agraz, Irene;
Lopez-Mendoza, Manuel;
de Arriba, Gabriel;
Corchete, Elena;
Quiroga, Borja;
Gutierrez, Maria Jose;
Martin-Conde, Maria Luisa;
Lopes, Vanessa;
Ramos, Carmela;
Mendez, Irene;
Cao, Mercedes

Publication type:

Article

Assessment of the function and morphology of the thyroid gland in paediatric patients treated with enzyme replacement therapy due to selected storage diseases - preliminary results of our own research and a review of the literature.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 114, doi. 10.5114/pedm.2022.112860

By:

Furtak, Aleksandra;
Wędrychowicz, Anna;
Roztoczyńska, Dorota;
Januś, Dominika;
Orchel-Szastak, Karolina;
Kwinta, Przemko;
Starzyk, Jerzy B.

Publication type:

Article

Impact of timing of PERT on gastrointestinal symptoms in Danish children and adolescents with CF.

Published in:

Acta Paediatrica, 2022, v. 111, n. 2, p. 432, doi. 10.1111/apa.16143

By:

Raun, Anne Mette Terp;
Brekke, Ghita;
Mølgaard, Christian;
Jaudszus, Anke;
Mainz, Jochen G.;
Pressler, Tacjana;
Skov, Marianne

Publication type:

Article

Enzyme‐functionalized hydrogel film for extracorporeal uric acid reduction.

Published in:

Journal of Biomedical Materials Research, Part B: Applied Biomaterials, 2024, v. 112, n. 2, p. 1, doi. 10.1002/jbm.b.35375

By:

Pantakitcharoenkul, Jaturavit;
Touma, Jad;
Jovanovic, Goran;
Coblyn, Matthew

Publication type:

Article

Treatment of Fabry Nephropathy: A Literature Review.

Published in:

Medicina (1010660X), 2023, v. 59, n. 8, p. 1478, doi. 10.3390/medicina59081478

By:

Shimohata, Homare;
Yamashita, Marina;
Yamada, Kota;
Hirayama, Kouichi;
Kobayashi, Masaki

Publication type:

Article

Cultured Macrophage Models for the Investigation of Lysosomal Glucocerebrosidase and Gaucher Disease.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 6, p. 2726, doi. 10.3390/ijms26062726

By:

Louwerse, Max;
Bila, Kateryna O.;
van der Lienden, Martijn J. C.;
de Beaufort, Arnout Jan M.;
Boot, Rolf G.;
Artola, Marta;
van Eijk, Marco;
Aerts, Johannes M. F. G.

Publication type:

Article

Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

Published in:

2025

By:

Moschetti, Marta;
Venezia, Marika;
Giacomarra, Miriam;
Marsana, Emanuela Maria;
Zizzo, Carmela;
Duro, Giulia;
D'Errico, Annalisa;
Colomba, Paolo;
Duro, Giovanni

Publication type:

Literature Review

Fucosidosis: A Review of a Rare Disease.

Published in:

2025

By:

Pekdemir, Burcu;
Bechelany, Mikhael;
Karav, Sercan

Publication type:

Literature Review

Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium.

Published in:

European Journal of Translational Myology, 2021, v. 31, n. 2, p. 1, doi. 10.4081/ejtm.2021.9798

By:

Angelini, Corrado

Publication type:

Article

Genetically-determined defects of T cell development.

Published in:

Allergy & Asthma Proceedings, 2024, v. 45, n. 5, p. 326, doi. 10.2500/aap.2024.45.240028

By:

Notarangelo, Luigi D.

Publication type:

Article

An update on multiplexed mass spectrometry‐based lysosomal storage disease diagnosis.

Published in:

Mass Spectrometry Reviews, 2024, v. 43, n. 5, p. 1135, doi. 10.1002/mas.21864

By:

Darie‐Ion, Laura;
Petre, Brînduşa Alina

Publication type:

Article

Effect of LRRK2 Inhibition on the Activity of Glucocerebrosidase in Patient-Specific Cells from Patients with Gaucher Disease.

Published in:

Biochemistry (00062979), 2025, v. 90, n. 1, p. 99, doi. 10.1134/S0006297924602739

By:

Usenko, Tatiana S.;
Basharova, Katerina S.;
Bezrukova, Anastasia I.;
Bezrukikh, Vadim A.;
Baydakova, Galina V.;
Zakharova, Ekaterina Yu.;
Pchelina, Sofya N.

Publication type:

Article

Evaluating biomarkers for diagnosis and treatment monitoring in Gaucher Disease.

Published in:

Ege Journal of Medicine, 2024, v. 63, n. 4, p. 513, doi. 10.19161/etd.1478953

By:

Yazıcı, Havva;
Erdem, Fehime;
Çelik, Merve Yoldaş;
Canbay, Erhan;
Canda, Ebru;
Sezer, Ebru;
Uçar, Sema Kalkan;
Sözmen, Eser Yıldırım;
Çoker, Mahmut

Publication type:

Article

Rational Prescribing of Pancreatic Enzymes for Patients with Pancreatic Cancer.

Published in:

Pharmacy, 2024, v. 12, n. 2, p. 47, doi. 10.3390/pharmacy12020047

By:

Garcia, Mary Acelle G.;
Imam, Syed;
Braun, Ursula K.;
Jackson, Leanne K.

Publication type:

Article

The Impact of Early Indication of Living Donor Liver Transplantation on the Outcomes of Patients With Propionic Acidemia: A Single‐Center Experience.

Published in:

Pediatric Transplantation, 2024, v. 28, n. 8, p. 1, doi. 10.1111/petr.14886

By:

Nakao, Toshimasa;
Sakamoto, Seisuke;
Shimizu, Seiichi;
Fukuda, Akinari;
Uchida, Hajime;
Yanagi, Yusuke;
Komine, Ryuji;
Kodama, Tasuku;
Ninomiya, Aoi;
Yamada, Masaki;
Ono, Hiroshi;
Nosaka, Shunsuke;
Horikawa, Reiko;
Kasahara, Mureo

Publication type:

Article

Successful engraftment of haploidentical stem cell transplant with post‐transplantation cyclophosphamide in a patient with adenosine deaminase deficiency.

Published in:

Pediatric Transplantation, 2021, v. 25, n. 6, p. 1, doi. 10.1111/petr.13954

By:

Medina, Diego;
Aristizabal, Ana M.;
Madroñero, Tatiana;
Perez, Paola;
Patiño Niño, Jaime;
Olaya, Manuela

Publication type:

Article

Upregulation of Cytotoxic T-cells in pediatric patients with Gaucher disease.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08843-4

By:

Zahran, Asmaa M.;
Saad, Khaled;
Elsayh, Khalid I.;
Abdou, Madleen Adel A.;
Abo-Elgheet, Amir M.;
Eloseily, Esraa M.;
Khalaf, Shaimaa M.;
Sror, Shabaan;
Ahmad, Faisal-Alkhateeb;
Elhoufey, Amira;
Ghandour, Aliaa;
Osman, Naglaa S.

Publication type:

Article

Evaluation of alveolar bone hypomineralization in pediatric hypophosphatasia using orthopantomography.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05171-5

By:

Okawa, Rena;
Nakamoto, Takashi;
Matayoshi, Saaya;
Nakano, Kazuhiko;
Kakimoto, Naoya

Publication type:

Article