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Development of Bone Targeting Drugs.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 7, p. 1345, doi. 10.3390/ijms18071345
By:
- Stapleton, Molly;
- Kazuki Sawamoto;
- Alméciga-Díaz, Carlos J.;
- Mackenzie, William G.;
- Mason, Robert W.;
- Tadao Orii;
- Shunji Tomatsu
Publication type:
Article
Blood pressure in adults with short stature skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 150, doi. 10.1002/ajmg.a.61402
By:
- Hoover‐Fong, Julie;
- Alade, Adekemi Yewande;
- Ain, Michael;
- Berkowitz, Ivor;
- Bober, Michael;
- Carter, Erin;
- Hecht, Jacqueline;
- Hoerschemeyer, Dan;
- Krakow, Debra;
- MacCarrick, Gretchen;
- Mackenzie, William G.;
- Mendoza, Roberto;
- Okenfuss, Ericka;
- Popplewell, Deirdre;
- Raggio, Cathleen;
- Schulze, Kerry;
- McGready, John
Publication type:
Article
Best practices in peri-operative management of patients with skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2584, doi. 10.1002/ajmg.a.38357
By:
- White, Klane K.;
- Bompadre, Viviana;
- Goldberg, Michael J.;
- Bober, Michael B.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie E.;
- Irving, Melita;
- Mackenzie, William G.;
- Kamps, Shawn E.;
- Raggio, Cathleen;
- Redding, Gregory J.;
- Spencer, Samantha S.;
- Savarirayan, Ravi;
- Theroux, Mary C.
Publication type:
Article
Metatropic dysplasia is associated with increased fracture risk.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1373, doi. 10.1002/ajmg.a.37576
By:
- Bober, Michael B.;
- Duker, Angela L.;
- Carney, Megan;
- Ditro, Colleen P.;
- Rogers, Kenneth;
- Mackenzie, William G.
Publication type:
Article
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2286, doi. 10.1002/ajmg.a.37182
By:
- Hurd, Lauren;
- Kirwin, Susan M.;
- Boggs, Mary;
- Mackenzie, William G.;
- Bober, Michael B.;
- Funanage, Vicky L.;
- Duncan, Randall L.
Publication type:
Article
International guidelines for the management and treatment of Morquio A syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 11, doi. 10.1002/ajmg.a.36833
By:
- Hendriksz, Christian J.;
- Berger, Kenneth I.;
- Giugliani, Roberto;
- Harmatz, Paul;
- Kampmann, Christoph;
- Mackenzie, William G.;
- Raiman, Julian;
- Villarreal, Martha Solano;
- Savarirayan, Ravi
Publication type:
Article
Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low- Level Uniparental Disomy.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 993, doi. 10.1002/ajmg.a.35831
By:
- Kalish, Jennifer M.;
- Conlin, Laura K.;
- Mostoufi‐Moab, Sogol;
- Wilkens, Alisha B.;
- Mulchandani, Surabhi;
- Zelley, Kristin;
- Kowalski, Megan;
- Bhatti, Tricia R.;
- Russo, Pierre;
- Mattei, Peter;
- Mackenzie, William G.;
- LiVolsi, Virginia;
- Nichols, Kim E.;
- Biegel, Jaclyn A.;
- Spinner, Nancy B.;
- Deardorff, Matthew A.
Publication type:
Article
C-type natriuretic Peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
Published in:
2015
By:
- Olney, Robert C;
- Prickett, Timothy C R;
- Espiner, Eric A;
- Mackenzie, William G;
- Duker, Angela L;
- Ditro, Colleen;
- Zabel, Bernhard;
- Hasegawa, Tomonobu;
- Kitoh, Hiroshi;
- Aylsworth, Arthur S;
- Bober, Michael B
Publication type:
Journal Article
Skeletal dysplasias: Evaluation with impulse oscillometry and thoracoabdominal motion analysis.
Published in:
Pediatric Pulmonology, 2010, v. 45, n. 7, p. 679, doi. 10.1002/ppul.21246
By:
- Rodriguez, M.E.;
- Mackenzie, William G.;
- Ditro, Colleen;
- Miller, Thomas L.;
- Chidekel, Aaron;
- Shaffer, Thomas H.
Publication type:
Article
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Published in:
2019
By:
- Kuiper, Gé-Ann;
- Langereis, Eveline J.;
- Breyer, Sandra;
- Carbone, Marco;
- Castelein, René M.;
- Eastwood, Deborah M.;
- Garin, Christophe;
- Guffon, Nathalie;
- van Hasselt, Peter M.;
- Hensman, Pauline;
- Jones, Simon A.;
- Kenis, Vladimir;
- Kruyt, Moyo;
- van der Lee, Johanna H.;
- Mackenzie, William G.;
- Orchard, Paul J.;
- Oxborrow, Neil;
- Parini, Rossella;
- Robinson, Amy;
- Schubert Hjalmarsson, Elke
Publication type:
journal article
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.
Published in:
Pediatric Anesthesia, 2017, v. 27, n. 6, p. 596, doi. 10.1111/pan.13101
By:
- Theroux, Mary C.;
- Lopez, Martha;
- Olszewsky, Patricia J.;
- DiCindio, Sabina;
- Arai, Lynda;
- Ditro, Colleen;
- Bober, Michael B.;
- Olla, Olubukola Opeyemi;
- Uejima, Tetsu;
- West, David W.;
- Mackenzie, William G.;
- Veyckemans, Francis
Publication type:
Article
Prophylactic methylprednisolone to reduce inflammation and improve outcomes from one lung ventilation in children: a randomized clinical trial.
Published in:
Pediatric Anesthesia, 2015, v. 25, n. 6, p. 587, doi. 10.1111/pan.12601
By:
- Theroux, Mary C.;
- Fisher, Alicia Olivant;
- Rodriguez, Maria E.;
- Brislin, Robert P.;
- Reichard, Kirk W.;
- Shah, Suken A.;
- McCoy, Matt;
- Brown, Melinda;
- Dabney, Kirk W.;
- Mackenzie, William G.;
- Katz, Douglas A.;
- Shaffer, Thomas H.
Publication type:
Article
Anesthetic care and perioperative complications of children with Morquio syndrome.
Published in:
Pediatric Anesthesia, 2012, v. 22, n. 9, p. 901, doi. 10.1111/j.1460-9592.2012.03904.x
By:
- Theroux, Mary C.;
- Nerker, Tanvi;
- Ditro, Colleen;
- Mackenzie, William G.
Publication type:
Article
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02738-x
By:
- Nahm, Nickolas J.;
- Mackenzie, W. G. Stuart;
- Mackenzie, William G.;
- Gough, Ethan;
- Hashmi, S. Shahrukh;
- Hecht, Jacqueline T.;
- Legare, Janet M.;
- Little, Mary Ellen;
- Modaff, Peggy;
- Pauli, Richard M.;
- Rodriguez-Buritica, David F.;
- Serna, Maria Elena;
- Smid, Cory J.;
- Hoover-Fong, Julie;
- Bober, Michael B.
Publication type:
Article
Possible mistakes in prediction of bone maturation in fibular hemimelia by Moseley chart.
Published in:
International Orthopaedics, 2011, v. 35, n. 5, p. 755, doi. 10.1007/s00264-010-0988-6
By:
- Szoke, György;
- Mackenzie, William G.;
- Domos, Gyula;
- Berki, Sándor;
- Kiss, Sándor;
- Bowen, J. Richard
Publication type:
Article
Improved distribution of leg forces after fibular resection and synostosis.
Published in:
Journal of Experimental Orthopaedics, 2022, v. 9, n. 1, p. 1, doi. 10.1186/s40634-022-00480-0
By:
- Rahman, Tariq;
- Oleas-Santillan, Geovanny;
- Wee, Jinyong;
- Mackenzie, William G.
Publication type:
Article
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.
Published in:
2021
By:
- Savarirayan, Ravi;
- Tunkel, David E.;
- Sterni, Laura M.;
- Bober, Michael B.;
- Cho, Tae-Joon;
- Goldberg, Michael J.;
- Hoover-Fong, Julie;
- Irving, Melita;
- Kamps, Shawn E.;
- Mackenzie, William G.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Bompadre, Viviana;
- White, Klane K.;
- on behalf of the Skeletal Dysplasia Management Consortium;
- on behalfof the Skeletal Dysplasia Management Consortium
Publication type:
journal article
Best practice guidelines for management of spinal disorders in skeletal dysplasia.
Published in:
2020
By:
- White, Klane K.;
- Bober, Michael B.;
- Cho, Tae-Joon;
- Goldberg, Michael J.;
- Hoover-Fong, Julie;
- Irving, Melita;
- Kamps, Shawn E.;
- Mackenzie, William G.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Bompadre, Viviana;
- Savarirayan, Ravi;
- Skeletal Dysplasia Management Consortium
Publication type:
journal article
impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.
Published in:
Drug Design, Development & Therapy, 2015, v. 9, p. 1937, doi. 10.2147/DDDT.S68562
By:
- Shunji Tomatsu;
- Kazuki Sawamoto;
- Alméciga-Díaz, Carlos J.;
- Shimada, Tsutomu;
- Bober, Michael B.;
- Yasutsugu Chinen;
- Hiromasa Yabe;
- Montaño, Adriana M.;
- Giugliani, Roberto;
- Kubaski, Francyne;
- Yasuda, Eriko;
- Rodríguez-López, Alexander;
- Espejo-Mojica, Angela J.;
- Sánchez, Oscar F.;
- Mason, Robert W.;
- Barrera, Luis A.;
- Mackenzie, William G.;
- Tadao Orii
Publication type:
Article
Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV).
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1350, doi. 10.3390/diagnostics11081350
By:
- Salazar-Torres, Jose J.;
- Church, Chris;
- Shields, Thomas;
- Shrader, M. Wade;
- Fisher, Lydia;
- Mackenzie, William G.;
- Mackenzie, W. G. Stuart
Publication type:
Article
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.
Published in:
Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0
By:
- Carroll, Ricki S.;
- Olney, Robert C.;
- Duker, Angela L.;
- Coghlan, Ryan F.;
- Mackenzie, William G.;
- Ditro, Colleen P.;
- Brown, Cassondra J.;
- O'Connell, David A.;
- Horton, William A.;
- Johnstone, Brian;
- Espiner, Eric A.;
- Prickett, Timothy C. R.;
- Bober, Michael B.
Publication type:
Article
Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography.
Published in:
Pediatric Radiology, 2021, v. 51, n. 7, p. 1202, doi. 10.1007/s00247-020-04946-0
By:
- Averill, Lauren W.;
- Kecskemethy, Heidi H.;
- Theroux, Mary C.;
- Mackenzie, William G.;
- Pizarro, Christian;
- Bober, Michael B.;
- Ditro, Colleen P.;
- Tomatsu, Shunji
Publication type:
Article
Prevalence of mental health conditions and pain in adults with skeletal dysplasia.
Published in:
2019
By:
- Jennings, Sarah E.;
- Ditro, Colleen P.;
- Bober, Michael B.;
- Mackenzie, William G.;
- Rogers, Kenneth J.;
- Conway, Laura;
- Duker, Angela L.
Publication type:
journal article

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