Works matching DE "SANFILIPPO syndrome"

Results: 93

Mucopolysaccharidosis type III (Sanfilippo syndrome): a rare case report.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2025, v. 74, n. 1, p. 49, doi. 10.37897/RJP.2025.1.7

By:

Gorbunov, Galina;
Grosu, Victoria;
Turcanu, Tamara

Publication type:

Article

An adolescent with Sanfilippo type 3B and effect of aripiprazole and atomoxetine treatment: a case report.

Published in:

2013

By:

Buyukdeniz, Ayse;
Yusufoglu, Canan;
Yilanli, Musa

Publication type:

Abstract

Is Mucopolysaccharidosis a Cause of Sleep and Speech Disorders? Report of Four Cases?

Published in:

2020

By:

Urgancı, Nafiye;
Kalyoncu, Derya;
Gümüştekin, Reyhan

Publication type:

Case Study

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

Sanfilippo syndrome: causes, consequences, and treatments.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 269, doi. 10.2147/TACG.S57672

By:

Fedele, Anthony O.

Publication type:

Article

BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis.

Published in:

PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0207836

By:

Yogalingam, Gouri;
Luu, Amanda R.;
Prill, Heather;
Lo, Melanie J.;
Yip, Bryan;
Holtzinger, John;
Christianson, Terri;
Aoyagi-Scharber, Mika;
Lawrence, Roger;
Crawford, Brett E.;
LeBowitz, Jonathan H.

Publication type:

Article

Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.

Published in:

PLoS ONE, 2018, p. 1, doi. 10.1371/journal.pone.0200008

By:

Clark, Wyatt T.;
Yu, G. Karen;
Aoyagi-Scharber, Mika;
LeBowitz, Jonathan H.

Publication type:

Article

Mucopolysaccharidosis III: Molecular basis and treatment.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2021, v. 27, n. 3, p. 199, doi. 10.5114/pedm.2021.109270

By:

Spahiu, Lidvana;
Behluli, Emir;
Peterlin, Borut;
Nefic, Hilada;
Hadziselimovic, Rifat;
Liehr, Thomas;
Temaj, Gazmend

Publication type:

Article

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).

Published in:

2019

By:

Muschol, Nicole M.;
Pape, Daniel;
Kossow, Kai;
Ullrich, Kurt;
Arash-Kaps, Laila;
Hennermann, Julia B.;
Stücker, Ralf;
Breyer, Sandra R.

Publication type:

journal article

Epidemiology of Sanfilippo syndrome: results of a systematic literature review.

Published in:

2018

By:

Zelei, Tamás;
Csetneki, Kata;
Vokó, Zoltán;
Siffel, Csaba

Publication type:

journal article

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.

Published in:

2018

By:

Kuiper, Gé-Ann;
Meijer, Olga L. M.;
Langereis, Eveline J.;
Wijburg, Frits A.

Publication type:

journal article

Mortality in patients with Sanfilippo syndrome.

Published in:

2017

By:

Lavery, Christine;
Hendriksz, Chris J.;
Jones, Simon A.

Publication type:

journal article

mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 3, p. 1273, doi. 10.3390/ijms26031273

By:

Santos, Juliana Inês;
Gonçalves, Mariana;
Almeida, Matilde Barbosa;
Rocha, Hugo;
Duarte, Ana Joana;
Matos, Liliana;
Moreira, Luciana Vaz;
Encarnação, Marisa;
Gaspar, Paulo;
Prata, Maria João;
Coutinho, Maria Francisca;
Alves, Sandra

Publication type:

Article

Extracellular vesicles from microglial cells activated by abnormal heparan sulfate oligosaccharides from Sanfilippo patients impair neuronal dendritic arborization.

Published in:

Molecular Medicine, 2024, v. 30, n. 1, p. 1, doi. 10.1186/s10020-024-00953-1

By:

Dias, Chloé;
Ballout, Nissrine;
Morla, Guillaume;
Alileche, Katia;
Santiago, Christophe;
Guerrera, Ida Chiara;
Chaubet, Adeline;
Ausseil, Jerome;
Trudel, Stephanie

Publication type:

Article

Extracellular vesicles from microglial cells activated by abnormal heparan sulfate oligosaccharides from Sanfilippo patients impair neuronal dendritic arborization.

Published in:

Molecular Medicine, 2024, v. 30, n. 1, p. 1, doi. 10.1186/s10020-024-00953-1

By:

Dias, Chloé;
Ballout, Nissrine;
Morla, Guillaume;
Alileche, Katia;
Santiago, Christophe;
Guerrera, Ida Chiara;
Chaubet, Adeline;
Ausseil, Jerome;
Trudel, Stephanie

Publication type:

Article

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).

Published in:

2018

By:

Hettiarachchi, Dineshani;
Nethikumara, Nilaksha;
Pathirana, Bamunu Arachchi Pathiranage Sajeewani;
Weththasigha, Kalum;
Dissanayake, Weerabaddana Dilshani Niluka;
Dissanayake, Vajira H. W.

Publication type:

Case Study

Is the eye a window to the brain in Sanfilippo syndrome?

Published in:

Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01070-w

By:

Beard, Helen;
Chidlow, Glyn;
Neumann, Daniel;
Nazri, Nazzmer;
Douglass, Meghan;
Trim, Paul J.;
Snel, Marten F.;
Casson, Robert J.;
Hemsley, Kim M.

Publication type:

Article

Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1254909

By:

Gul, Rutaba;
Firasat, Sabika;
Schubert, Mikkel;
Ullah, Asmat;
Peña, Elionora;
Thuesen, Anne C. B.;
Gjesing, Annete P.;
Hussain, Mulazim;
Tufail, Muhammad;
Saqib, Muhammad;
Afshan, Kiran;
Hansen, Torben

Publication type:

Article

Filipin complex‐reactive brain lesions: A cautionary tale.

Published in:

Neuropathology & Applied Neurobiology, 2024, v. 50, n. 1, p. 1, doi. 10.1111/nan.12950

By:

Lau, Adeline A.;
Trim, Paul J.;
King, Barbara M.;
Hassiotis, Sofia;
Hung, Ya Hui;
Bush, Ashley I.;
Snel, Marten F.;
Hemsley, Kim M.

Publication type:

Article

Pediatric Interventions in a Sanfilippo Syndrome Patient Under General Anesthesia: A Case Report.

Published in:

2025

By:

Al Malak, Ahmad;
Issawi, Hassan;
Hassoun, Mohammad;
Al Halabi, Mohammad;
Macan, Darko

Publication type:

Case Study

Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.

Published in:

Toxins, 2024, v. 16, n. 7, p. 286, doi. 10.3390/toxins16070286

By:

Mohanty, Diksha;
Riordan, Heather R. M.;
Hedera, Peter

Publication type:

Article

A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome).

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121511

By:

Ugrinov, Krastyu G.;
Freed, Stefan D.;
Thomas, Clayton L.;
Lee, Shaun W.

Publication type:

Article

Assessment of Sleep in Children with Mucopolysaccharidosis Type III.

Published in:

PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0084128

By:

Mahon, Louise Victoria;
Lomax, Michelle;
Grant, Sheena;
Cross, Elaine;
Hare, Dougal Julian;
Wraith, James Ed;
Jones, Simon;
Bigger, Brian;
Langford-Smith, Kia;
Canal, Maria

Publication type:

Article

A Rapid and Sensitive Method for Measuring N-Acetylglucosaminidase Activity in Cultured Cells.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0068060

By:

Mauri, Victor;
Lotfi, Parisa;
Segatori, Laura;
Sardiello, Marco

Publication type:

Article

Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B.

Published in:

PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027461

By:

Ohmi, Kazuhiro;
Zhao, Hui-Zhi;
Neufeld, Elizabeth F.

Publication type:

Article

Blood-Brain Barrier Impairment in an Animal Model of MPS III B.

Published in:

PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0016601

By:

Garbuzova-Davis, Svitlana;
Louis, Michael K.;
Haller, Edward M.;
Derasari, Hiranya M.;
Rawls, Ashley E.;
Sanberg, Paul R.

Publication type:

Article

Chronic subdural hematoma associated with mucopolysaccharidosis type III B (Sanfilippo's syndrome B).

Published in:

2016

By:

Kawasaki, Toshinari;
Kitagawa, Masashi;
Suzuki, Keita;
Wataya, Takafumi

Publication type:

Letter

An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome).

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45178-0

By:

Pollock, Kari;
Noritake, Sabrina;
Imai, Denise M.;
Pastenkos, Gabrielle;
Olson, Marykate;
Cary, Whitney;
Yang, Sheng;
Fierro, Fernando A.;
White, Jeannine;
Graham, Justin;
Dahlenburg, Heather;
Johe, Karl;
Nolta, Jan A.

Publication type:

Article

Protein aggregation and autophagy dysfunction: new lessons from mucopolysaccharidoses.

Published in:

Autophagy, 2021, v. 17, n. 11, p. 3875, doi. 10.1080/15548627.2021.1961076

By:

Monaco, Antonio;
Fraldi, Alessandro

Publication type:

Article

Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial.

Published in:

2022

By:

Conijn, T.;
De Roos, C.;
Vreugdenhil, H. J. I.;
Van Dijk-Lokkart, E. M.;
Wijburg, F. A.;
Haverman, L.

Publication type:

journal article

Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies.

Published in:

2021

By:

Pérez-Núñez, P.;
Lázaro, E.;
Amayra, I.;
López-Paz, J. F.;
Caballero, P.;
Martínez, O.;
Pérez, M.;
Berrocoso, S.;
Al-Rashaida, M.;
García, M.;
Rodríguez, A. A.;
Luna, P. M.

Publication type:

journal article

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 336, doi. 10.1093/brain/awu355

By:

Martins, Carla;
Hůlková, Helena;
Dridi, Larbi;
Dormoy-Raclet, Virginie;
Grigoryeva, Lubov;
Choi, Yoo;
Langford-Smith, Alexander;
Wilkinson, Fiona L.;
Ohmi, Kazuhiro;
DiCristo, Graziella;
Hamel, Edith;
Ausseil, Jerôme;
Cheillan, David;
Moreau, Alain;
Svobodová, Eva;
Hájková, Zuzana;
Tesařová, Markéta;
Hansíková, Hana;
Bigger, Brian W.;
Hrebícek, Martin

Publication type:

Article

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Published in:

2017

By:

Knottnerus, Suzan J. G.;
Nijmeijer, Stephanie C. M.;
IJlst, Lodewijk;
te Brinke, Heleen;
van Vlies, Naomi;
Wijburg, Frits A.

Publication type:

journal article

Perioperative care of a child with Sanfilippo syndrome for adenotonsillectomy.

Published in:

Pediatric Anesthesia & Critical Care Journal (PACCJ), 2021, v. 9, n. 1, p. 30, doi. 10.14587/paccj.2021.5

By:

Bekiroglu, I.;
Tobias, J. D.

Publication type:

Article

Determination of mucopolysaccharidosis IIID in some goat breeds.

Published in:

Turkish Journal of Veterinary & Animal Sciences, 2021, v. 45, n. 5, p. 964, doi. 10.3906/vet-2101-41

By:

GEDİK, Yasemin;
KAVUNCU, Orhan

Publication type:

Article

OCCURRENCE OF SANFILIPPO SYNDROME IN TWO SISTERS.

Published in:

2015

By:

DE CARVALHO, ANDRÉ LUÍS PIRES;
COSTA, NATÁLIA INÊS;
SILVA, CYNTHIA MARCUSSI

Publication type:

Case Study

Electrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB.

Published in:

Scientific Reports, 2015, p. 17143, doi. 10.1038/srep17143

By:

Tse, Dennis Y.;
Lotfi, Parisa;
Simons, David L.;
Sardiello, Marco;
Wu, Samuel M.

Publication type:

Article

EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.

Published in:

Scientific Reports, 2015, p. 13654, doi. 10.1038/srep13654

By:

Canals, Isaac;
Benetó, Noelia;
Cozar, Mónica;
Vilageliu, Lluïsa;
Grinberg, Daniel

Publication type:

Article

Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment.

Published in:

Neurology & Therapy, 2021, v. 10, n. 1, p. 197, doi. 10.1007/s40120-020-00226-z

By:

Porter, Katherine Ackerman;
O'Neill, Cara;
Drake, Elise;
Parker, Samantha;
Escolar, Maria L.;
Montgomery, Stacey;
Moon, William;
Worrall, Carolyn;
Peay, Holly L.

Publication type:

Article

Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?

Published in:

Animal Genetics, 2022, v. 53, n. 4, p. 530, doi. 10.1111/age.13207

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Christen, Matthias;
Paris, Julia M.;
Seefried, Franz R.;
Drögemüller, Cord

Publication type:

Article

Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene.

Published in:

Biopolymers & Cell, 2016, v. 32, n. 5, p. 359, doi. 10.7124/bc.00092D

By:

Trofimova, N. S.;
Olkhovich, N. V.;
Gorovenko, N. G.

Publication type:

Article

Specificities of Sanfilippo A syndrome laboratory diagnostics.

Published in:

Biopolymers & Cell, 2014, v. 30, n. 5, p. 388, doi. 10.7124/bc.0008B6

By:

Trofimova, N. S.;
Olkhovich, N. V.;
Gorovenko, N. G.

Publication type:

Article

Abnormal Gangliosides are Localized in Lipid Rafts in Sanfilippo (MPS3a) Mouse Brain.

Published in:

Neurochemical Research, 2012, v. 37, n. 6, p. 1372, doi. 10.1007/s11064-012-0761-x

By:

Dawson, G.;
Fuller, M.;
Helmsley, K.;
Hopwood, J.

Publication type:

Article

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 78, doi. 10.1186/s13023-014-0180-y

By:

Matos, Liliana;
Canals, Isaac;
Dridi, Larbi;
Yoo Choi;
Prata, Maria João;
Jordan, Peter;
Desviat, Lourdes R.;
Pérez, Belén;
Pshezhetsky, Alexey V.;
Grinberg, Daniel;
Alves, Sandra;
Vilageliu, Lluïsa

Publication type:

Article

Natural history of Sanfilippo syndrome in Spain.

Published in:

2013

By:

Delgadillo, Verónica;
O'Callaghan, Maria del;
Gort, Laura;
Coll, Maria Josep;
Pineda, Mercedes;
O'Callaghan, Maria del Mar

Publication type:

journal article

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1356

By:

Pierzynowska, Karolina;
Mański, Arkadiusz;
Limanówka, Monika;
Wierzba, Jolanta;
Gaffke, Lidia;
Anikiej, Paulina;
Węgrzyn, Grzegorz

Publication type:

Article

Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-77032-y

By:

Egeland, Martin T.;
Tarczyluk-Wells, Marta M.;
Asmar, Melissa M.;
Adintori, Evan G.;
Lawrence, Roger;
Snella, Elizabeth M.;
Jens, Jackie K.;
Crawford, Brett E.;
Wait, Jill C. M.;
McCullagh, Emma;
Pinkstaff, Jason;
Cooper, Jonathan D.;
Ellinwood, N. Matthew

Publication type:

Article

Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu ( Dromaius novaehollandiae ) flock.

Published in:

Avian Pathology, 2018, v. 47, n. 1, p. 100, doi. 10.1080/03079457.2017.1380293

By:

Genger, Seiche C.;
Mizukami, Keijiro;
Martin, Michael P.;
Applegate, Jeffrey R.;
Barnes, H. John;
Giger, Urs

Publication type:

Article

Blood-brain barrier impairment in MPS III patients.

Published in:

BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-174

By:

Garbuzova-Davis, Svitlana;
Mirtyl, Santhia;
Sallot, Sebastian A.;
Hernandez-Ontiveros, Diana G.;
Haller, Edward;
Sanberg, Paul R.

Publication type:

Article

External genitalia hypertrophy in an adolescent girl with Sanfilippo syndrome.

Published in:

2016

By:

Bacopoulou, Flora;
Apostolaki, Despoina;
Pons, Roser

Publication type:

journal article