Works matching DE "SANFILIPPO syndrome"

Results: 97

Correction: Ashby et al. Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice. Int. J. Mol. Sci. 2023, 24 , 13988.

Published in:

2025

By:

Ashby, Frederick James;
Castillo, Evelyn J.;
Ludwig, Yan;
Andraka, Natalia K.;
Chen, Cong;
Jamieson, Julia C.;
Kabbej, Nadia;
Sommerville, John D.;
Aguirre, Jose I.;
Heldermon, Coy D.

Publication type:

Correction Notice

The first case of sick sinus syndrome with an adult Sanfilippo A syndrome: a case report with review of literature.

Published in:

2025

By:

Wang, Yuming;
Zhou, Wenjing;
Du, Changqing;
Tang, Yimin;
Zhu, Kefu

Publication type:

Case Study

A Case of Sanfilippo Syndrome Type C and Wolfram Syndrome Type 1 and the Role of Next-Generation Sequencing in Diagnosis.

Published in:

Journal of Behcet Uz Children's Hospital, 2025, v. 15, n. 2, p. 121, doi. 10.4274/jbuch.galenos.2025.23471

By:

Yiğit, Zehra Manav;
Savaş, Rıdvan;
Erbaş, Aydan Mengübaş;
Bozkurt, Gökay;
Tosun, Ayşe

Publication type:

Article

Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10874-9

By:

Moeinifar, Nafiseh;
Hojati, Zohreh

Publication type:

Article

General anesthesia with a native airway for patients with mucopolysaccharidosis type III.

Published in:

Pediatric Anesthesia, 2017, v. 27, n. 4, p. 370, doi. 10.1111/pan.13108

By:

Kamata, Mineto;
McKee, Christopher;
Truxal, Kristen V.;
Flanigan, Kevin M.;
McBride, Kim L.;
Aylward, Shawn C.;
Tobias, Joseph D.;
Corridore, Marco;
Veyckemans, Francis

Publication type:

Article

Delivery of anesthesia for children with Mucopolysaccharidosis Type III (Sanfilippo syndrome): a review of 86 anesthetics.

Published in:

Pediatric Anesthesia, 2017, v. 27, n. 4, p. 363, doi. 10.1111/pan.13075

By:

Cohen, Marc A.;
Stuart, Grant M.;
Veyckemans, Francis

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

Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49614-1

By:

Zhao, Boyang;
Cao, Zhongzheng;
Zheng, Yi;
Nguyen, Phuong;
Bowen, Alisa;
Edwards, Robert H.;
Stroud, Robert M.;
Zhou, Yi;
Van Lookeren Campagne, Menno;
Li, Fei

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

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

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.

Published in:

Metabolic Brain Disease, 2023, v. 38, n. 6, p. 2013, doi. 10.1007/s11011-023-01204-8

By:

Liang, Yingjun;
Gao, Xiaolan;
Lu, Deyun;
Zhang, Huiwen;
Zhang

Publication type:

Article

How close are we to therapies for Sanfilippo disease?

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 1, p. 1, doi. 10.1007/s11011-017-0111-4

By:

Gaffke, Lidia;
Pierzynowska, Karolina;
Piotrowska, Ewa;
Węgrzyn, Grzegorz

Publication type:

Article

Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1403, doi. 10.1007/s11011-017-0009-1

By:

Fu, Haiyan;
Meadows, Aaron;
Pineda, Ricardo;
Mohney, Robert;
Stirdivant, Steve;
McCarty, Douglas

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

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

Azurophilic inclusions in lymphocytes and plasma cells: a case of Sanfilippo disease.

Published in:

British Journal of Haematology, 2014, v. 164, n. 5, p. 618, doi. 10.1111/bjh.12658

By:

Nava‐Aguilera, María‐Luisa;
Velasco‐Rodríguez, Diego;
Villarrubia, Jesús;
Alonso‐Domínguez, Juan‐Manuel;
Carrillo‐Farga, Joaquín

Publication type:

Article

Photobiomodulation in the infrared spectrum reverses the expansion of circulating natural killer cells and brain microglial activation in Sanfilippo mice.

Published in:

Journal of Neurochemistry, 2024, v. 168, n. 9, p. 2791, doi. 10.1111/jnc.16145

By:

Lau, A. A.;
Jin, K.;
Beard, H.;
Windram, T.;
Xie, K.;
O'Brien, J. A.;
Neumann, D.;
King, B. M.;
Snel, M. F.;
Trim, P. J.;
Mitrofanis, J.;
Hemsley, K. M.;
Austin, P. J.

Publication type:

Article

Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood‐onset dementia.

Published in:

Journal of Neurochemistry, 2023, v. 166, n. 3, p. 481, doi. 10.1111/jnc.15891

By:

Winner, Leanne K.;
Rogers, Mary‐Louise;
Snel, Marten F.;
Hemsley, Kim M.

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

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

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

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

Pathological and Biochemical Studies of Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) in Juvenile Emus (Dromaius novaehollandiae).

Published in:

Veterinary Pathology, 2015, v. 52, n. 1, p. 160, doi. 10.1177/0300985814529314

By:

Palmieri, C.;
Giger, U.;
Wang, P.;
Pizarro, M.;
Shivaprasad, H. L.

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

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

Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.705423

By:

Barone, Rita;
Fiumara, Agata;
Gulisano, Mariangela;
Cirnigliaro, Lara;
Cocuzza, Maria Donatella;
Guida, Claudia;
Pettinato, Fabio;
Greco, Filippo;
Elia, Maurizio;
Rizzo, Renata

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

Bone mineral density in patients with mucopolysaccharidosis type III.

Published in:

2017

By:

Nur, Banu;
Nur, Hakan;
Mihci, Ercan;
Nur, Banu Guzel

Publication type:

journal 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

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver–Bucy syndrome.

Published in:

Journal of Clinical & Experimental Neuropsychology, 2013, v. 35, n. 6, p. 608, doi. 10.1080/13803395.2013.804035

By:

Potegal, Michael;
Yund, Brianna;
Rudser, Kyle;
Ahmed, Alia;
Delaney, Kate;
Nestrasil, Igor;
Whitley, ChesterB.;
Shapiro, ElsaG.

Publication type:

Article

Sanfilippo Disease.

Published in:

2012

By:

Barik, K. L.;
Kumar, P.;
Ghosh, T. N.;
De, S.;
Basu, S.

Publication type:

Case Study

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

Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA.

Published in:

Journal of Neurochemistry, 2016, v. 137, n. 3, p. 409, doi. 10.1111/jnc.13533

By:

King, Barbara;
Hassiotis, Sofia;
Rozaklis, Tina;
Beard, Helen;
Trim, Paul J.;
Snel, Marten F.;
Hopwood, John J.;
Hemsley, Kim M.

Publication type:

Article

Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis.

Published in:

2018

By:

Tebani, Abdellah;
Abily-Donval, Lenaig;
Schmitz-Afonso, Isabelle;
Héron, Bénédicte;
Piraud, Monique;
Ausseil, Jérôme;
Zerimech, Farid;
Gonzalez, Bruno;
Marret, Stéphane;
Afonso, Carlos;
Bekri, Soumeya;
Héron, Bénédicte;
Ausseil, Jérôme;
Marret, Stéphane

Publication type:

journal article

Clinical Manifestations.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2014, v. 12, n. 1, p. 21
Publication type:: Article

Screening and Diagnosis.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2014, v. 12, n. 1, p. 17
Publication type:: Article

Screening and Diagnosis.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 128
Publication type:: Article

Current Management Options for Sanfilippo Syndrome.

Published in:

Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 101

By:

Pineda, Mercedes

Publication type:

Article

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.

Published in:

2013

By:

Pintos-Morell, Guillem

Publication type:

Opinion

Novel Therapies.

Published in:: 2012
Publication type:: Abstract

Novel Therapies.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 2, p. 57
Publication type:: Article

Genetics.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 2, p. 47
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

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