Works matching Sanfilippo syndrome

Results: 236

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

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

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

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

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

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

External genitalia hypertrophy in an adolescent girl with Sanfilippo syndrome.

Published in:

2016

By:

Bacopoulou, Flora;
Apostolaki, Despoina;
Pons, Roser

Publication type:

journal 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

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

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

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

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

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

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

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

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data.

Published in:

2019

By:

Shapiro, Elsa;
Lourenço, Charles Marques;
Mungan, Neslihan Onenli;
Muschol, Nicole;
O'Neill, Cara;
Vijayaraghavan, Suresh

Publication type:

journal 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

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

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

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

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

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

Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 10, p. 1225, doi. 10.1515/jpem-2020-0742

By:

Kong, Weijing;
Wu, Shanshan;
Zhang, Jing;
Lu, Cheng;
Ding, Yingxue;
Meng, Yan

Publication type:

Article

Moderate Hyperhomocysteinemia along with Increased Levels of Vitamin B12 in a 21-Year-Old Male with the Sanfilippo Syndrome: A Case Report.

Published in:

Case Reports in Clinical Nutrition, 2020, v. 3, n. 1-3, p. 7, doi. 10.1159/000512215

By:

Detopoulou, Paraskevi;
Chini, Maria;
Kalonarchi, Garifalia;
Detopoulou, Maria;
Papamikos, Vasilios;
Karampeli, Maria;
Kollia, Christina;
Lazanas, Marios K.

Publication type:

Article

Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?

Published in:

2016

By:

Kartal, Ayşe

Publication type:

Case Study

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 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

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

PRENATAL DIAGNOSIS OF SANFILIPPO A SYNDROME: EXPERIENCE IN 35 PREGNANCIES AT RISK AND THE USE OF A NEW FLUOROGENIC SUBSTRATE FOR THE HEPARIN SULPHAMIDASE ASSAY.

Published in:

Prenatal Diagnosis, 1996, v. 16, n. 9, p. 829, doi. 10.1002/(SICI)1097-0223(199609)16:9<829::AID-PD953>3.0.CO;2-H

By:

KLEIJER, W. J.;
KARPOVA, E. A.;
GEILEN, G. C.;
KEULEMANS, J. L. M.;
HUIJMANS, J. G. M.;
TSVETKOVA, I. V.;
VOZNYI, YA. V.;
VAN DIGGELEN, O. P.

Publication type:

Article

Sleep problems in children with Sanfilippo syndrome.

Published in:

1996

By:

Colville, Gillian A;
Walters, John P;
Yule, William;
Bax, Martin;
Colville, G A;
Watters, J P;
Yule, W;
Bax, M

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

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

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

Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome.

Published in:

Journal of Patient-Reported Outcomes, 2022, v. 6, n. 1, p. 1, doi. 10.1186/s41687-022-00447-w

By:

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

Publication type:

Article

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

Published in:

Clinical Genetics, 2011, v. 80, n. 4, p. 367, doi. 10.1111/j.1399-0004.2010.01525.x

By:

Canals, I;
Elalaoui, SC;
Pineda, M;
Delgadillo, V;
Szlago, M;
Jaouad, IC;
Sefiani, A;
Chabás, A;
Coll, MJ;
Grinberg, D;
Vilageliu, L

Publication type:

Article

Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.

Published in:

Clinical Genetics, 2002, v. 62, n. 5, p. 418, doi. 10.1034/j.1399-0004.2002.620512.x

By:

Fraser, J;
Wraith, JE;
Delatycki, MB

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

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

Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes.

Published in:

Molecular Therapy, 2011, v. 19, n. 2, p. 251, doi. 10.1038/mt.2010.265

By:

Ellinwood, N. Matthew;
Ausseil, Jérôme;
Desmaris, Nathalie;
Bigou, Stéphanie;
Song Liu;
Jens, Jackie K.;
Snella, Elizabeth M.;
Mohammed, Eman E. A.;
Thomson, Christopher B.;
Raoul, Sylvie;
Joussemet, Béatrice;
Roux, Françoise;
Chérel, Yan;
Lajat, Yaouen;
Piraud, Monique;
Benchaouir, Rachid;
Hermening, Stephan;
Petry, Harald;
Froissart, Roseline;
Tardieu, Marc

Publication type:

Article

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

Hyperactivity, Unexplained Speech Delay, and Coarse Facies—Is It Sanfilippo Syndrome?

Published in:

Journal of Child Neurology, 2014, v. 29, n. 8, p. NP9, doi. 10.1177/0883073813491627

By:

Saini, Arushi Gahlot;
Singhi, Pratibha;
Sahu, Jitendra Kumar;
Ganesan, Saptharishi L.;
Vyas, Sameer;
Rao, Sandeep;
Sachdeva, Man Updesh Singh

Publication type:

Article

A case report of Sanfilippo syndrome – the long way to diagnosis.

Published in:

BMC Neurology, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12883-022-02611-7

By:

Lorenz, Delia;
Musacchio, Thomas;
Kunstmann, Erdmute;
Grauer, Eva;
Pluta, Natalie;
Stock, Annika;
Speer, Christian P.;
Hebestreit, Helge

Publication type:

Article

A case report of Sanfilippo syndrome - the long way to diagnosis.

Published in:

2022

By:

Lorenz, Delia;
Musacchio, Thomas;
Kunstmann, Erdmute;
Grauer, Eva;
Pluta, Natalie;
Stock, Annika;
Speer, Christian P.;
Hebestreit, Helge

Publication type:

journal article

Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III).

Published in:

1998

By:

Robertson, S. P.;
Klug, G. L.;
Rogers, J. G.

Publication type:

journal article