Results 101 to 110 of about 1,275 (171)

Eficácia e segurança da terapia com idursulfase em pacientes com mucopolissacaridose tipo II, com e sem comparação com placebo: revisão sistemática e metanálise

Cadernos de Saúde Pública, 2013
A mucopolissacaridose tipo II (MPS II) é uma doença genética de amplo espectro clínico, caracterizada por deficiência da enzima iduronato-2sulfatase.
Taciane Alegra, Dauana Pitano Eizerik, Caio César Silva de Cerqueira, Tiago V. Pereira, Alícia Dorneles Dornelles, Ida Vanessa Doederlein Schwartz   +5 more
doaj   +1 more source

Diagnosing mucopolysaccharidosis IVA [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
A Fujimoto, A James, A Megarbane, A Ohashi, A Tylki-Szymanska, AI Arbisser, AL Beaudet, AM Montano, AN Doman, Andrea Schenone, C Prat, CA Pennock, CB Whitley, CB Whitley, CG Summers, Christian J. Hendriksz, Chunli Yu, D Krakow, David Ketteridge, DH Cohn, DW Hollister, E Baker, E Wessler, EF Neufeld, G Gray, G Kohn, G Nishimura, GR Fraser, H Groebe, H Northover, H Zhao, Heather J. Church, HV Dyggve, J Glossl, J Glossl, J Muenzer, J Nelson, J Singh, J Spranger, JE Wraith, JE Wraith, Jerry N. Thompson, JG Jong de, JG Jong de, JJ Hopwood, JN Isenberg, JP Hintze, K Longdon, K Nakamura, K Ullrich, Karen Tylee, Katie Harvey, LA Martell, LS Levin, M Aldenhoven, M Beck, M Burin, M Masuno, M Piraud, M Shohat, Maira Graeff Burin, Marzia Pasquali, Michael Beck, Michael Fietz, MP Whyte, MV Camelier, Nicole Miller, OP Diggelen van, Otto P. van Diggelen, P Harmatz, Paul Harmatz, R Hata, R Humbel, R Lawrence, R Matalon, Roberto Giugliani, S Catarzi, S Chaisomchit, S Fukuda, S Gosele, S Pajares, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, Sara M. Hawley, SB Frazier, T Dierks, T Khaliq, T Oguma, T Wood, T Yutaka, TA Duffey, Timothy C. Wood, TJ Lehman, V El Ghouzzi, VA McKusick, Vânia D’Almeida, W Holzgreve, WJ Kleijer, Wuh-Liang Hwu, Y Miyamoto, Y Nakashima, Yin-Hsiu Chien, Zoltan Lukacs, ZS Gucev   +106 more
core   +4 more sources

Early initiation of enzyme replacement therapy for the mucopolysaccharidoses [PDF]

, 2014
The mucopolysaccharidoses (MPS), a group of rare genetic disorders caused by defects in glycosaminoglycan (GAG) catabolism, are progressive, multi-systemic diseases with a high burden of morbidity. Enzyme replacement therapy (ERT) is available for MPS I,
Muenzer, Joseph
core   +2 more sources

Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome

Case Reports in Ophthalmology, 2019
We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with mucopolysaccharidosis type II, Hunter syndrome, with degeneration of the retina and abnormalities of the optic nerve.
Ryutaro Yamanishi, Natsuko Nakamura, Kazushige Tsunoda   +2 more
doaj   +1 more source

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Orphanet Journal of Rare Diseases, 2018
Background Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients ...
Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Shuan-Pei Lin   +10 more
doaj   +1 more source

Growth in expenditure on high cost drugs in Australia [PDF]

The paper provides an overview of the expenditure of high cost drugs in Australia and examines the average annual growth of these programs. The outlook for expenditure on high cost medicines and possible policy responses is also considered.
Rebecca de Boer, Roy Harvey
core  

Intracerebroventricular Enzyme Replacement Therapy in Patients with Neuropathic Form of Mucopolysaccharidosis Type II: to Help Practicing Physician

Вопросы современной педиатрии
Mucopolysaccharidosis type II (Hunter syndrome, MPS II) is a rare hereditary disease from the group of hereditary metabolic diseases. There are neuropathic and non-neuropathic forms of this disease. The neuropathic form is most common and leads to severe
Nataliya V. Zhurkova, Nato D. Vashakmadze, Georgiy A. Karkashadze, Elena V. Kaytukova   +3 more
doaj   +1 more source

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience [PDF]

, 2013

core   +1 more source

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 [PDF]

, 2016

core   +1 more source

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. [PDF]

Orphanet J Rare Dis, 2023
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA.   +9 more
europepmc   +1 more source