PMC Links for Books (Select 3042306) - PMC

Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs

Orphanet J Rare Dis. 2019; 14: 137. Published online 2019 Jun 13. doi: 10.1186/s13023-019-1074-9

PMCID:: PMC6567385

Article PDF–841K

Select item 64597914.

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

Alessandra Zanetti, Francesca D’Avanzo, Laura Rigon, Angelica Rampazzo, Daniela Concolino, Rita Barone, Nicola Volpi, Lucia Santoro, Susanna Lualdi, Francesca Bertola, Maurizio Scarpa, Rosella Tomanin

Eur J Pediatr. 2019; 178(5): 739–753. Published online 2019 Feb 26. doi: 10.1007/s00431-019-03341-8

PMCID:: PMC6459791

Article PDF–423K

Select item 61805715.

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone

BMC Med Genet. 2018; 19: 183. Published online 2018 Oct 11. doi: 10.1186/s12881-018-0694-6

PMCID:: PMC6180571

Article PDF–1.2M

Select item 61756436.

Molecular Genetics and Metabolism Special Edition: Diagnosis Diagnosis and Prognosis of Mucopolysaccharidosis IVA

Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu

Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 18–37. Published online 2018 May 15. doi: 10.1016/j.ymgme.2018.05.004

PMCID:: PMC6175643

Article PDF–1.1M

Select item 45629197.

Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis

Blazej Pruszczynski, William G Mackenzie, Kenneth Rogers, Klane K. White

Clin Orthop Relat Res. 2015 Oct; 473(10): 3315–3320. Published online 2015 Aug 5. doi: 10.1007/s11999-015-4437-0

PMCID:: PMC4562919

Article PDF–583K

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

Article PDF–960K

Select item 43094079.

International Guidelines for the Management and Treatment of Morquio A Syndrome

Christian J Hendriksz, Kenneth I Berger, Roberto Giugliani, Paul Harmatz, Christoph Kampmann, William G Mackenzie, Julian Raiman, Martha Solano Villarreal, Ravi Savarirayan

Am J Med Genet A. 2015 Jan; 167(1): 11–25. Published online 2014 Oct 24. doi: 10.1002/ajmg.a.36833

PMCID:: PMC4309407

Article PDF–2.4M

Select item 425169410.

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Regina M Leadley, Shona Lang, Kate Misso, Trudy Bekkering, Janine Ross, Takeyuki Akiyama, Michael Fietz, Roberto Giugliani, Chris J Hendriksz, Ngu Lock Hock, Jim McGill, Andrew Olaye, Mohit Jain, Jos Kleijnen

Orphanet J Rare Dis. 2014; 9: 173. Published online 2014 Nov 18. doi: 10.1186/s13023-014-0173-x

PMCID:: PMC4251694

Article PDF–780K

Select item 423874711.

Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database

Amelia Morrone, Anna Caciotti, Robert Atwood, Kathryn Davidson, Chaoyi Du, Patricia Francis-Lyon, Paul Harmatz, Matthew Mealiffe, Sean Mooney, Tal Ronnen Oron, April Ryles, Karl A Zawadzki, Nicole Miller

Hum Mutat. 2014 Nov; 35(11): 1271–1279. Published online 2014 Sep 17. doi: 10.1002/humu.22635

PMCID:: PMC4238747

Article PDF–500K

Select item 412895112.

Orthopedic management of the extremities in patients with Morquio A syndrome

Klane K. White, Andrea Jester, C. Edward Bache, Paul R. Harmatz, Renée Shediac, Mihir M. Thacker, William G. Mackenzie

J Child Orthop. 2014 Aug; 8(4): 295–304. Published online 2014 Jul 8. doi: 10.1007/s11832-014-0601-4

PMCID:: PMC4128951

Article PDF–859K

Select item 359042313.

Diagnosing mucopolysaccharidosis IVA

Timothy C. Wood, Katie Harvey, Michael Beck, Maira Graeff Burin, Yin-Hsiu Chien, Heather J. Church, Vânia D’Almeida, Otto P. van Diggelen, Michael Fietz, Roberto Giugliani, Paul Harmatz, Sara M. Hawley, Wuh-Liang Hwu, David Ketteridge, Zoltan Lukacs, Nicole Miller, Marzia Pasquali, Andrea Schenone, Jerry N. Thompson, Karen Tylee, Chunli Yu, Christian J. Hendriksz

J Inherit Metab Dis. 2013; 36(2): 293–307. Published online 2013 Feb 1. doi: 10.1007/s10545-013-9587-1

PMCID:: PMC3590423

Article PDF–493K

Select item 359042214.

Anaesthesia and airway management in mucopolysaccharidosis

Robert Walker, Kumar G. Belani, Elizabeth A. Braunlin, Iain A. Bruce, Henrik Hack, Paul R. Harmatz, Simon Jones, Richard Rowe, Guirish A. Solanki, Barbara Valdemarsson

J Inherit Metab Dis. 2013; 36(2): 211–219. Published online 2012 Nov 30. doi: 10.1007/s10545-012-9563-1

PMCID:: PMC3590422

Article PDF–287K

Select item 359041215.

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

Guirish A. Solanki, Kenneth W. Martin, Mary C. Theroux, Christina Lampe, Klane K. White, Renée Shediac, Christian G. Lampe, Michael Beck, William G. Mackenzie, Christian J. Hendriksz, Paul R. Harmatz

J Inherit Metab Dis. 2013; 36(2): 339–355. Published online 2013 Feb 6. doi: 10.1007/s10545-013-9586-2

PMCID:: PMC3590412

Article PDF–762K

Select item 359039916.

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

Christian J. Hendriksz, Maisoon Al-Jawad, Kenneth I. Berger, Sara M. Hawley, Rebecca Lawrence, Ciarán Mc Ardle, C. Gail Summers, Elizabeth Wright, Elizabeth Braunlin

J Inherit Metab Dis. 2013; 36(2): 309–322. Published online 2012 Feb 23. doi: 10.1007/s10545-012-9459-0

PMCID:: PMC3590399

Article PDF–253K

Select item 347211417.

The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A

Yadilette Rivera-Colón, Emily K. Schutsky, Adriana Z. Kita, Scott C. Garman

J Mol Biol. Author manuscript; available in PMC 2013 Nov 9.

Published in final edited form as: J Mol Biol. 2012 Nov 9; 423(5): 736–751. Published online 2012 Aug 29. doi: 10.1016/j.jmb.2012.08.020

PMCID:: PMC3472114

Article PDF–3.8M

Select item 333835618.

Skeletal Dysplasias: Evaluation with Impulse Oscillometry and Thoracoabdominal Motion Analysis

M. E. Rodriguez, William G. Mackenzie, Colleen Ditro, Thomas L. Miller, Aaron Chidekel, Thomas H. Shaffer

Pediatr Pulmonol. Author manuscript; available in PMC 2012 Apr 27.

Published in final edited form as: Pediatr Pulmonol. 2010 Jul; 45(7): 679–686. doi: 10.1002/ppul.21246

PMCID:: PMC3338356

Article PDF–1.0M

Select item 326586219.

Crystal Structure of Human β-Galactosidase: STRUCTURAL BASIS OF G_M1 GANGLIOSIDOSIS AND MORQUIO B DISEASES

Umeharu Ohto, Kimihito Usui, Toshinari Ochi, Kenjiro Yuki, Yoshinori Satow, Toshiyuki Shimizu

J Biol Chem. 2012 Jan 13; 287(3): 1801–1812. Published online 2011 Nov 28. doi: 10.1074/jbc.M111.293795

PMCID:: PMC3265862

Article PDF–5.5M

Select item 322895720.

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

Elizabeth A. Braunlin, Paul R. Harmatz, Maurizio Scarpa, Beatriz Furlanetto, Christoph Kampmann, James P. Loehr, Katherine P. Ponder, William C. Roberts, Howard M. Rosenfeld, Roberto Giugliani

J Inherit Metab Dis. 2011; 34(6): 1183–1197. Published online 2011 Jul 9. doi: 10.1007/s10545-011-9359-8

PMCID:: PMC3228957

Article PDF–595K

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