Works matching Sanfilippo syndrome
1
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8856, doi. 10.3390/ijms25168856
- 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
- Article
2
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13988, doi. 10.3390/ijms241813988
- 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.
- Article
3
- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2021, v. 9, n. 1, p. 30, doi. 10.14587/paccj.2021.5
- Bekiroglu, I.;
- Tobias, J. D.
- Article
4
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 644, doi. 10.3390/jcm9030644
- 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
- Article
5
- Neurology & Therapy, 2021, v. 10, n. 1, p. 197, doi. 10.1007/s40120-020-00226-z
- Porter, Katherine Ackerman;
- O'Neill, Cara;
- Drake, Elise;
- Parker, Samantha;
- Escolar, Maria L.;
- Montgomery, Stacey;
- Moon, William;
- Worrall, Carolyn;
- Peay, Holly L.
- Article
6
- 2016
- Bacopoulou, Flora;
- Apostolaki, Despoina;
- Pons, Roser
- journal article
7
- 2018
- Zelei, Tamás;
- Csetneki, Kata;
- Vokó, Zoltán;
- Siffel, Csaba
- journal article
8
- 2017
- Lavery, Christine;
- Hendriksz, Chris J.;
- Jones, Simon A.
- journal article
9
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5948, doi. 10.3390/ijms22115948
- Douek, Alon M.;
- Amiri Khabooshan, Mitra;
- Henry, Jason;
- Stamatis, Sebastian-Alexander;
- Kreuder, Florian;
- Ramm, Georg;
- Änkö, Minna-Liisa;
- Wlodkowic, Donald;
- Kaslin, Jan
- Article
10
- 2018
- Hettiarachchi, Dineshani;
- Nethikumara, Nilaksha;
- Pathirana, Bamunu Arachchi Pathiranage Sajeewani;
- Weththasigha, Kalum;
- Dissanayake, Weerabaddana Dilshani Niluka;
- Dissanayake, Vajira H. W.
- Case Study
11
- 2015
- DE CARVALHO, ANDRÉ LUÍS PIRES;
- COSTA, NATÁLIA INÊS;
- SILVA, CYNTHIA MARCUSSI
- Case Study
12
- Application of Clinical Genetics, 2015, v. 8, p. 269, doi. 10.2147/TACG.S57672
- Article
13
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1254909
- 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
- Article
14
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1356
- Pierzynowska, Karolina;
- Mański, Arkadiusz;
- Limanówka, Monika;
- Wierzba, Jolanta;
- Gaffke, Lidia;
- Anikiej, Paulina;
- Węgrzyn, Grzegorz
- Article
15
- Diagnostics (2075-4418), 2022, v. 12, n. 5, p. N.PAG, doi. 10.3390/diagnostics12051268
- 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
- Article
16
- 2019
- Muschol, Nicole M.;
- Pape, Daniel;
- Kossow, Kai;
- Ullrich, Kurt;
- Arash-Kaps, Laila;
- Hennermann, Julia B.;
- Stücker, Ralf;
- Breyer, Sandra R.
- journal article
17
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01070-w
- Beard, Helen;
- Chidlow, Glyn;
- Neumann, Daniel;
- Nazri, Nazzmer;
- Douglass, Meghan;
- Trim, Paul J.;
- Snel, Marten F.;
- Casson, Robert J.;
- Hemsley, Kim M.
- Article
18
- 2013
- Delgadillo, Verónica;
- O'Callaghan, Maria del;
- Gort, Laura;
- Coll, Maria Josep;
- Pineda, Mercedes;
- O'Callaghan, Maria del Mar
- journal article
19
- Journal of Multidisciplinary Healthcare, 2022, v. 15, p. 2097, doi. 10.2147/JMDH.S362994
- Cyske, Zuzanna;
- Anikiej-Wiczenbach, Paulina;
- Wisniewska, Karolina;
- Gaffke, Lidia;
- Pierzynowska, Karolina;
- Mański, Arkadiusz;
- Wegrzyn, Grzegorz
- Article
20
- Pediatric Anesthesia, 2017, v. 27, n. 4, p. 363, doi. 10.1111/pan.13075
- Cohen, Marc A.;
- Stuart, Grant M.;
- Veyckemans, Francis
- Article
21
- Journal of Neurochemistry, 2023, v. 166, n. 3, p. 481, doi. 10.1111/jnc.15891
- Winner, Leanne K.;
- Rogers, Mary‐Louise;
- Snel, Marten F.;
- Hemsley, Kim M.
- Article
22
- 2016
- Kawasaki, Toshinari;
- Kitagawa, Masashi;
- Suzuki, Keita;
- Wataya, Takafumi
- Letter
23
- Scientific Reports, 2015, p. 13654, doi. 10.1038/srep13654
- Canals, Isaac;
- Benetó, Noelia;
- Cozar, Mónica;
- Vilageliu, Lluïsa;
- Grinberg, Daniel
- Article
24
- 2025
- Al Malak, Ahmad;
- Issawi, Hassan;
- Hassoun, Mohammad;
- Al Halabi, Mohammad;
- Macan, Darko
- Case Study
25
- Journal of Child Neurology, 2017, v. 32, n. 2, p. 177, doi. 10.1177/0883073816672391
- Velasco, Harvy Mauricio;
- Sanchez, Yasmin;
- Martin, Angela Milena;
- Umaña, Luis A.
- Article
26
- Veterinary Pathology, 2015, v. 52, n. 1, p. 160, doi. 10.1177/0300985814529314
- Palmieri, C.;
- Giger, U.;
- Wang, P.;
- Pizarro, M.;
- Shivaprasad, H. L.
- Article
27
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45178-0
- 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.
- Article
28
- Gene Therapy, 2013, v. 20, n. 9, p. 913, doi. 10.1038/gt.2013.14
- 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
- Article
29
- Avian Pathology, 2018, v. 47, n. 1, p. 100, doi. 10.1080/03079457.2017.1380293
- Genger, Seiche C.;
- Mizukami, Keijiro;
- Martin, Michael P.;
- Applegate, Jeffrey R.;
- Barnes, H. John;
- Giger, Urs
- Article
30
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027461
- Ohmi, Kazuhiro;
- Zhao, Hui-Zhi;
- Neufeld, Elizabeth F.
- Article
31
- Biopolymers & Cell, 2014, v. 30, n. 5, p. 388, doi. 10.7124/bc.0008B6
- Trofimova, N. S.;
- Olkhovich, N. V.;
- Gorovenko, N. G.
- Article
32
- 2021
- 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.
- journal article
33
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49614-1
- Zhao, Boyang;
- Cao, Zhongzheng;
- Zheng, Yi;
- Nguyen, Phuong;
- Bowen, Alisa;
- Edwards, Robert H.;
- Stroud, Robert M.;
- Zhou, Yi;
- Van Lookeren Campagne, Menno;
- Li, Fei
- Article
34
- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 101
- Article
35
- PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0207836
- 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.
- Article
36
- Revista Habanera de Ciencias Médicas, 2021, v. 20, n. 2, p. 1
- Chiong Quesada, Carmen María;
- Sánchez, Tatiana Acosta;
- de la Fuente Carbonell, Sofía Marela
- Article
37
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7819, doi. 10.3390/ijms21217819
- Benetó, Noelia;
- Vilageliu, Lluïsa;
- Grinberg, Daniel;
- Canals, Isaac
- Article
38
- International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2594, doi. 10.3390/ijms18122594
- Jou-Ku Chung;
- Luying Pan;
- Palmieri, Kathleen;
- Youssef, Amir S.;
- McCauley, Thomas G.
- Article
39
- Clinical Genetics, 2004, v. 65, n. 2, p. 143, doi. 10.1111/j.0009-9163.2004.00210.x
- Beesley, C.;
- Moraitou, M.;
- Winchester, B.;
- Schulpis, K.;
- Dimitriou, E.;
- Michelakakis, H.
- Article
40
- Acta Neuropathologica, 1989, v. 77, n. 4, p. 426, doi. 10.1007/BF00687378
- Dowson, J.;
- Wilton-Cox, H.;
- Oldfors, A.;
- Sourander, P.
- Article
41
- International Journal Bioautomation, 2015, v. 19, n. 1, p. 5
- Zaka, Mehreen;
- Komal, Mawra;
- Shafique, Shagufta;
- Shahzad, Shaheen
- Article
42
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-62352-0
- Mohammed, Eman E. A.;
- Fayez, Alaaeldin G.;
- Abdelfattah, Nabil M.;
- Fateen, Ekram
- Article
43
- Journal of Neurochemistry, 2024, v. 168, n. 9, p. 2791, doi. 10.1111/jnc.16145
- 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.
- Article
44
- 2022
- 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
- journal article
45
- Neuroradiology, 2023, v. 65, n. 9, p. 1381, doi. 10.1007/s00234-023-03157-2
- Huang, Shiwei;
- Beatty, Zachary J.;
- Mckinney, Alexander M.;
- Nascene, David R.
- Article
46
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 78, doi. 10.1186/s13023-014-0180-y
- 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
- Article
47
- Learning Disability Practice, 2017, v. 20, n. 2, p. 17, doi. 10.7748/ldp.2017.e1790
- Page, Andrea;
- Gayson, Charlotte;
- Vanes, Nicola;
- Ashmore, Paul;
- McDonnell, Andrew
- Article
48
- Pharmaceutical Research, 2016, v. 33, n. 4, p. 809, doi. 10.1007/s11095-015-1841-9
- Article
49
- Journal of Human Genetics, 2005, v. 50, n. 7, p. 357, doi. 10.1007/s10038-005-0258-4
- Chinen, Yasutsugu;
- Tohma, Takaya;
- Izumikawa, Yoshinori;
- Uehara, Hiroyuki;
- Ohta, Takao
- Article
50
- Children, 2023, v. 10, n. 12, p. 1920, doi. 10.3390/children10121920
- Romagnuolo, Maurizio;
- Moltrasio, Chiara;
- Gasperini, Serena;
- Marzano, Angelo Valerio;
- Cambiaghi, Stefano
- Article