Works matching DE "SLY syndrome"

Results: 12

In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency.

Published in:

Ultrasound in Obstetrics & Gynecology, 2000, v. 16, n. 1, p. 87, doi. 10.1046/j.1469-0705.2000.00148.x

By:

Den Hollander, N. S.;
Kleijer, W. J.;
Schoonderwaldt, E. M.;
Los, F. J.;
Wladimiroff, J. W.;
Niermeijer, M. F.

Publication type:

Article

Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene.

Published in:

Journal of Veterinary Internal Medicine, 2015, v. 29, n. 4, p. 1022, doi. 10.1111/jvim.13569

By:

Wang, P.;
Sorenson, J.;
Strickland, S.;
Mingus, C.;
Haskins, M.E.;
Giger, U.

Publication type:

Article

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Published in:

2017

By:

Ghosh, Arunabha;
Shapiro, Elsa;
Rust, Stewart;
Delaney, Kathleen;
Parker, Samantha;
Shaywitz, Adam J.;
Morte, Adelaida;
Bubb, Gillian;
Cleary, Maureen;
Tien Bo;
Lavery, Christine;
Bigger, Brian W.;
Jones, Simon A.;
Bo, Tien

Publication type:

journal article

Prospects for Gene Therapy in Pediatric Neurosurgery.

Published in:

Pediatric Neurosurgery, 1998, v. 28, n. 1, p. 3, doi. 10.1159/000028611

By:

Kaplitt, Michael G.;
Darakchiev, Borimir;
During, Matthew J.

Publication type:

Article

An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States.

Published in:

2019

By:

Conner, Therese;
Cook, Francesca;
Fernandez, Vivian;
Rascati, Karen;
Rangel-Miller, Vanessa

Publication type:

journal article

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

Published in:

Case Reports in Pediatrics, 2017, p. 1, doi. 10.1155/2017/9523427

By:

Kadhim, Hazim;
Segers, Valérie;
Vilain, Catheline;
Désir, Julie;
D’Haene, Nicky

Publication type:

Article

Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII.

Published in:

Bone Marrow Transplantation, 2000, v. 25, n. 12, p. 1289, doi. 10.1038/sj.bmt.1702448

By:

Sammarco, C;
Weil, M;
Just, C;
Weimelt, S;
Hasson, C;
O’Malley, T;
Evans, S M;
Wang, P;
Casal, M L;
Wolfe, J;
Haskins, M

Publication type:

Article

Causas del hidrops fetal: experiencia en un hospital obstétrico del Occidente de México.

Published in:

Ginecología y Obstetricia de México, 2022, v. 90, n. 7, p. 579, doi. 10.24245/gom.v90i7.6623

By:

Becerra-Solano, Luis Eduardo;
Medina-Castellanos, Marcela;
Oseguera-Torres, Luis Fernando;
Mendoza-Ruvalcaba, Sandra del Carmen;
Domínguez-Quezada, María Guadalupe;
Elías García-Ortiz, José

Publication type:

Article

Treatment for Rare Enzyme Disorder.

Published in:

JAMA: Journal of the American Medical Association, 2018, v. 319, n. 1, p. 14, doi. 10.1001/jama.2017.20058

By:

Voelker, Rebecca

Publication type:

Article

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

Published in:

Clinical Genetics, 2003, v. 64, n. 2, p. 172, doi. 10.1034/j.1399-0004.2003.00119.x

By:

Schwartz, I.;
Silva, L. R.;
Leistner, S.;
Todeschini, L. A.;
Burin, M. G.;
Pina-Neto, J. M.;
Islam, R. M.;
Shah, G. N.;
Sly, W. S.;
Giugliani, R.

Publication type:

Article

Corrective GUSB Transfer to the Canine Mucopolysaccharidosis VII Brain.

Published in:

Molecular Therapy, 2014, v. 22, n. 4, p. 762, doi. 10.1038/mt.2013.283

By:

Cubizolle, Aurelie;
Serratrice, Nicolas;
Skander, Nadia;
Colle, Marie-Anne;
Ibanes, Sandy;
Gennetier, Aurelie;
Bayo-Puxan, Neus;
Mazouni, Khalil;
Mennechet, Franck;
Joussemet, Beatrice;
Cherel, Yan;
Lajat, Yaouen;
Vite, Charles;
Bernex, Florence;
Kalatzis, Vasiliki;
Haskins, Mark E;
Kremer, Eric J

Publication type:

Article

Enhanced Secretion and Uptake of β-Glucuronidase Improves Adeno-associated Viral-Mediated Gene Therapy of Mucopolysaccharidosis Type VII Mice

Published in:

Molecular Therapy, 2002, v. 5, n. 5, p. 617, doi. 10.1006/mthe.2002.0594

By:

Elliger, Susan S.;
Elliger, Carl A.;
Lang, Chen;
Watson, Gordon L.

Publication type:

Article