Adriana Monta帽o, Ph.D.
Associate Professor
Pediatrics
Research
Enzyme replacement therapy, gene therapy, and other treatments for mucopolysaccharidosis type IVA or Morquio Disease.
Research Interests
We are working on developing a registry and growth charts for patients with MPS IVA and are in pre-clinical trials for enzyme replacement therapy for patients affected by MPS IVA. We are also developing a bone targeting system for treatment of MPS disorders, substrate reduction therapy for MPSs, and gene therapy for MPS IVA. Other areas of interest are characterization of hyaluronidases, the molecular evolution of glycosaminoglycans and peptidoglycan receptor proteins, and chondroitin sulfate metabolism.
Publications
Recent
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II
Kubaski F, Yabe H, Suzuki Y, Seto T, Hamazaki T, Mason RW, Xie L, Onsten TGH, Leistner-Segal
S, Giugliani R, D农ng VC, Ngoc CTB, Yamaguchi S, Monta帽o AM, Orii KE, Fukao T, Shintaku
H, Orii T and Tomatsu S
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans
by tandem mass spectrometry
Kubaski F, Mason RW, Nakatomi A, Shintaku H, Xie L, van Vlies NN, Church H, Giugliani
R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii T, Fukao T, Monta帽o AM and Tomatsu S
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Activity of daily living for Morquio A syndrome
Yasuda E, Suzuki Y, Shimada T, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Xie
L, Miller F, Rahman T, Kecskemethy HH, Nagao K, Morlet T, Shaffer TH, Chinen Y, Yabe
H, Tanaka A, Shintaku H, Orii KE, Orii KO, Mason RW, Monta帽o AM, Fukao T, Orii T and
Tomatsu S
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Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Monta帽o AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M,
Gonzalez-Meneses A, 脟oker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya
A, Pastores G, Ketko AK, Ezg眉 F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya
K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M and Sly WS
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Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in
patients with Morquio A syndrome
Tomatsu S, Sawamoto K, Alm茅ciga-D铆az CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Monta帽o
AM, Giugliani R, Kubaski F, Yasuda E, Rodr铆guez-L贸pez A, Espejo-Mojica AJ, S谩nchez
OF, Mason RW, Barrera LA, Mackenzie WG and Orii T
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