PMC Links for Books (Select 1485994) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 71737562.

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

Edina MK da Silva, Maria Wany Louzada Strufaldi, Regis B Andriolo, Laercio A Silva, Cochrane Cystic Fibrosis and Genetic Disorders Group

Cochrane Database Syst Rev. 2016 Feb; 2016(2): CD008185. Published online 2016 Feb 5. doi: 10.1002/14651858.CD008185.pub4

PMCID:: PMC7173756

Abstract Article PDF–322K

Select item 56933493.

Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

Molly Stapleton, Francyne Kubaski, Robert W. Mason, Hiromasa Yabe, Yasuyuki Suzuki, Kenji E. Orii, Tadao Orii, Shunji Tomatsu

Expert Opin Orphan Drugs. Author manuscript; available in PMC 2018 Mar 8.

Published in final edited form as: Expert Opin Orphan Drugs. 2017; 5(4): 295–307. Published online 2017 Mar 8. doi: 10.1080/21678707.2017.1296761

PMCID:: PMC5693349

Abstract Article PDF–803K

Select item 56274404.

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck

Orphanet J Rare Dis. 2017; 12: 161. Published online 2017 Oct 3. doi: 10.1186/s13023-017-0712-3

PMCID:: PMC5627440

Abstract Article PDF–595K

Select item 56089285.

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

José Francisco da Silva Franco, Regina El Dib, Arnav Agarwal, Diogo Soares, Noala Vicensoto Moreira Milhan, Lilian Maria José Albano, Chong Ae Kim

Intractable Rare Dis Res. 2017 Aug; 6(3): 183–190. doi: 10.5582/irdr.2017.01036

PMCID:: PMC5608928

Abstract Article PDF–707K

Select item 54705316.

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

Anneliese L. Barth, Tatiana S.P.C. de Magalhães, Ana Beatriz R. Reis, Maria Lucia de Oliveira, Fernanda B. Scalco, Nicolette C. Cavalcanti, Daniel S. e Silva, Danielle A. Torres, Alessandra A.P. Costa, Carmem Bonfim, Roberto Giugliani, Juan C. Llerena, Jr, Dafne D.G. Horovitz

Mol Genet Metab Rep. 2017 Sep; 12: 62–68. Published online 2017 Jun 8. doi: 10.1016/j.ymgmr.2017.05.010

PMCID:: PMC5470531

Abstract Article PDF–717K

Select item 50338727.

CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome)

Sandra Motas, Virginia Haurigot, Miguel Garcia, Sara Marcó, Albert Ribera, Carles Roca, Xavier Sánchez, Víctor Sánchez, Maria Molas, Joan Bertolin, Luca Maggioni, Xavier León, Jesús Ruberte, Fatima Bosch

JCI Insight. 2016 Jun 16; 1(9): e86696. Published online 2016 Jun 16. doi: 10.1172/jci.insight.86696

PMCID:: PMC5033872

Abstract Article PDF–5.1M

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 42133279.

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

Christina Lampe, Andrea Atherton, Barbara K. Burton, Maria Descartes, Roberto Giugliani, Dafne D. G. Horovitz, Sandra O. Kyosen, Tatiana S. P. C. Magalhães, Ana Maria Martins, Nancy J. Mendelsohn, Joseph Muenzer, Laurie D. Smith

JIMD Rep. 2014; 14: 99–113. Published online 2014 Feb 11. doi: 10.1007/8904_2013_289

PMCID:: PMC4213327

Abstract Article PDF–430K

Select item 418006010.

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

Rosella Tomanin, Alessandra Zanetti, Francesca D’Avanzo, Angelica Rampazzo, Nicoletta Gasparotto, Rossella Parini, Antonia Pascarella, Daniela Concolino, Elena Procopio, Agata Fiumara, Andrea Borgo, Anna Chiara Frigo, Maurizio Scarpa

Orphanet J Rare Dis. 2014; 9: 129. Published online 2014 Sep 18. doi: 10.1186/s13023-014-0129-1

PMCID:: PMC4180060

Abstract Article PDF–689K

Select item 415840911.

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

Christina Lampe, Ann-Kathrin Bosserhoff, Barbara K. Burton, Roberto Giugliani, Carolina F. de Souza, Camila Bittar, Nicole Muschol, Rebecca Olson, Nancy J. Mendelsohn

J Inherit Metab Dis. 2014; 37(5): 823–829. Published online 2014 Mar 5. doi: 10.1007/s10545-014-9686-7

PMCID:: PMC4158409

Abstract Article PDF–188K

Select item 406098012.

Growth charts for patients with Hunter syndrome

Pravin Patel, Yasuyuki Suzuki, Miho Maeda, Eriko Yasuda, Tsutomu Shimada, Kenji E. Orii, Tadao Orii, Shunji Tomatsu

Mol Genet Metab Rep. 2014; 1: 5–18. Published online 2014 Jan 4. doi: 10.1016/j.ymgmr.2013.10.001

PMCID:: PMC4060980

Abstract Article PDF–782K

Select item 369799613.

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

Encarna Guillén-Navarro, María Rosario Domingo-Jiménez, Carlos Alcalde-Martín, Ramón Cancho-Candela, María Luz Couce, Enrique Galán-Gómez, Olga Alonso-Luengo

Orphanet J Rare Dis. 2013; 8: 92. Published online 2013 Jun 25. doi: 10.1186/1750-1172-8-92

PMCID:: PMC3697996

Abstract Article PDF–500K

Select item 322349814.

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Linda De Meirleir, Nathalie Guffon, Encarna Guillén-Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine A Lavery, Elisa Leão Teles, Bianca Link, Allan M Lund, Gunilla Malm, Susanne Pitz, Michael Rothera, Catherine Stewart, Anna Tylki-Szymańska, Ans van der Ploeg, Robert Walker, Jiri Zeman, James E Wraith

Orphanet J Rare Dis. 2011; 6: 72. Published online 2011 Nov 7. doi: 10.1186/1750-1172-6-72

PMCID:: PMC3223498

Abstract Article PDF–831K

Select item 302666015.

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II

G. Schulze-Frenking, Simon A. Jones, J. Roberts, M. Beck, J. E. Wraith

J Inherit Metab Dis. 2011; 34(1): 203–208. Published online 2010 Oct 27. doi: 10.1007/s10545-010-9215-2

PMCID:: PMC3026660

Abstract Article PDF–134K

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