Works matching Sanfilippo syndrome

Results: 272

The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8856, doi. 10.3390/ijms25168856

By:

Barbero-Herranz, Raquel;
Garriga-García, María;
Moreno-Blanco, Ana;
Palacios, Esther;
Ruiz-Sala, Pedro;
Vicente-Santamaría, Saioa;
Stanescu, Sinziana;
Belanger-Quintana, Amaya;
Pintos-Morell, Guillem;
Arconada, Beatriz;
del Campo, Rosa;
Avendaño-Ortiz, José

Publication type:

Article

Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13988, doi. 10.3390/ijms241813988

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:

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

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 644, doi. 10.3390/jcm9030644

By:

Benetó, Noelia;
Cozar, Monica;
Castilla-Vallmanya, Laura;
Zetterdahl, Oskar G.;
Sacultanu, Madalina;
Segur-Bailach, Eulalia;
García-Morant, María;
Ribes, Antonia;
Ahlenius, Henrik;
Grinberg, Daniel;
Vilageliu, Lluïsa;
Canals, Isaac

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

External genitalia hypertrophy in an adolescent girl with Sanfilippo syndrome.

Published in:

2016

By:

Bacopoulou, Flora;
Apostolaki, Despoina;
Pons, Roser

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

Mortality in patients with Sanfilippo syndrome.

Published in:

2017

By:

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

Publication type:

journal article

An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5948, doi. 10.3390/ijms22115948

By:

Douek, Alon M.;
Amiri Khabooshan, Mitra;
Henry, Jason;
Stamatis, Sebastian-Alexander;
Kreuder, Florian;
Ramm, Georg;
Änkö, Minna-Liisa;
Wlodkowic, Donald;
Kaslin, Jan

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

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

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

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

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

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.

Published in:

Diagnostics (2075-4418), 2022, v. 12, n. 5, p. N.PAG, doi. 10.3390/diagnostics12051268

By:

Fernández-Hernández, Liliana;
Reyna-Fabián, Miriam Erandi;
Alcántara-Ortigoza, Miguel Angel;
Aláez-Verson, Carmen;
Flores-Lagunes, Luis L.;
Carrillo-Sánchez, Karol;
González-del Angel, Ariadna

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

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

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

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.

Published in:

Journal of Multidisciplinary Healthcare, 2022, v. 15, p. 2097, doi. 10.2147/JMDH.S362994

By:

Cyske, Zuzanna;
Anikiej-Wiczenbach, Paulina;
Wisniewska, Karolina;
Gaffke, Lidia;
Pierzynowska, Karolina;
Mański, Arkadiusz;
Wegrzyn, Grzegorz

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

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

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

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

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

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.

Published in:

Journal of Child Neurology, 2017, v. 32, n. 2, p. 177, doi. 10.1177/0883073816672391

By:

Velasco, Harvy Mauricio;
Sanchez, Yasmin;
Martin, Angela Milena;
Umaña, Luis A.

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

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

Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice.

Published in:

Gene Therapy, 2013, v. 20, n. 9, p. 913, doi. 10.1038/gt.2013.14

By:

Heldermon, C D;
Qin, E Y;
Ohlemiller, K K;
Herzog, E D;
Brown, J R;
Vogler, C;
Hou, W;
Orrock, J L;
Crawford, B E;
Sands, M S

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

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

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

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

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

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

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

Mutación novel en el Síndrome Sanfilippo B. Presentación de un caso.

Published in:

Revista Habanera de Ciencias Médicas, 2021, v. 20, n. 2, p. 1

By:

Chiong Quesada, Carmen María;
Sánchez, Tatiana Acosta;
de la Fuente Carbonell, Sofía Marela

Publication type:

Article

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7819, doi. 10.3390/ijms21217819

By:

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

Publication type:

Article

Whole Body and CNS Biodistribution of rhHNS in Cynomolgus Monkeys after Intrathecal Lumbar Administration: Treatment Implications for Patients with MPS IIIA.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2594, doi. 10.3390/ijms18122594

By:

Jou-Ku Chung;
Luying Pan;
Palmieri, Kathleen;
Youssef, Amir S.;
McCauley, Thomas G.

Publication type:

Article

Short Report Sanfilippo B syndrome: molecular defects in Greek patients.

Published in:

Clinical Genetics, 2004, v. 65, n. 2, p. 143, doi. 10.1111/j.0009-9163.2004.00210.x

By:

Beesley, C.;
Moraitou, M.;
Winchester, B.;
Schulpis, K.;
Dimitriou, E.;
Michelakakis, H.

Publication type:

Article

Autofluorescence emission spectra of neuronal lipopigment in mucopolysaccharidosis (Sanfilippo's syndrome).

Published in:

Acta Neuropathologica, 1989, v. 77, n. 4, p. 426, doi. 10.1007/BF00687378

By:

Dowson, J.;
Wilton-Cox, H.;
Oldfors, A.;
Sourander, P.

Publication type:

Article

In silico Analysis of Candidate Genes Involved in Sanfilippo Syndrome.

Published in:

International Journal Bioautomation, 2015, v. 19, n. 1, p. 5

By:

Zaka, Mehreen;
Komal, Mawra;
Shafique, Shagufta;
Shahzad, Shaheen

Publication type:

Article

Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-62352-0

By:

Mohammed, Eman E. A.;
Fayez, Alaaeldin G.;
Abdelfattah, Nabil M.;
Fateen, Ekram

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

Sanfilippo syndrome: consensus guidelines for clinical care.

Published in:

2022

By:

Muschol, Nicole;
Giugliani, Roberto;
Jones, Simon A.;
Muenzer, Joseph;
Smith, Nicholas J. C.;
Whitley, Chester B.;
Donnell, Megan;
Drake, Elise;
Elvidge, Kristina;
Melton, Lisa;
O'Neill, Cara;
MPS III Guideline Development Group

Publication type:

journal article

Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III).

Published in:

Neuroradiology, 2023, v. 65, n. 9, p. 1381, doi. 10.1007/s00234-023-03157-2

By:

Huang, Shiwei;
Beatty, Zachary J.;
Mckinney, Alexander M.;
Nascene, David R.

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

Determining the sensory needs of children with Hunter and Sanfilippo syndromes who need hospital treatment.

Published in:

Learning Disability Practice, 2017, v. 20, n. 2, p. 17, doi. 10.7748/ldp.2017.e1790

By:

Page, Andrea;
Gayson, Charlotte;
Vanes, Nicola;
Ashmore, Paul;
McDonnell, Andrew

Publication type:

Article

Incentives for Starting Small Companies Focused on Rare and Neglected Diseases.

Published in:

Pharmaceutical Research, 2016, v. 33, n. 4, p. 809, doi. 10.1007/s11095-015-1841-9

By:

Ekins, Sean;
Wood, Jill

Publication type:

Article

Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α- N-acetylglucosaminidase gene from the Okinawa islands in Japan.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 7, p. 357, doi. 10.1007/s10038-005-0258-4

By:

Chinen, Yasutsugu;
Tohma, Takaya;
Izumikawa, Yoshinori;
Uehara, Hiroyuki;
Ohta, Takao

Publication type:

Article

Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.

Published in:

Children, 2023, v. 10, n. 12, p. 1920, doi. 10.3390/children10121920

By:

Romagnuolo, Maurizio;
Moltrasio, Chiara;
Gasperini, Serena;
Marzano, Angelo Valerio;
Cambiaghi, Stefano

Publication type:

Article