-
1
-
-
0003720078
-
The mucopolysaccharidoses
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds., New York: McGraw-Hill Medical Publishing Division
-
Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. New York: McGraw-Hill Medical Publishing Division; 2001:3421-3452
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
84876092348
-
The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects
-
Harmatz P, Mengel KE, Giugliani R, et al. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54-61
-
(2013)
Mol Genet Metab
, vol.109
, Issue.1
, pp. 54-61
-
-
Harmatz, P.1
Mengel, K.E.2
Giugliani, R.3
-
3
-
-
84879687716
-
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA
-
Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36(2):309-22
-
(2013)
J Inherit Metab Dis
, vol.36
, Issue.2
, pp. 309-322
-
-
Hendriksz, C.J.1
Al-Jawad, M.2
Berger, K.I.3
-
4
-
-
33947615114
-
International Morquio A Registry: Clinicalmanifestation and natural course of Morquio A disease
-
Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinicalmanifestation and natural course of Morquio A disease. J InheritMetab Dis. 2007;30(2):165-174
-
(2007)
J Inheritmetab Dis
, vol.30
, Issue.2
, pp. 165-174
-
-
Montaño, A.M.1
Tomatsu, S.2
Gottesman, G.S.3
Smith, M.4
Orii, T.5
-
5
-
-
79956276859
-
Mucopolysaccharidosis type IVA (Morquio A disease): Clinical review and current treatment
-
Tomatsu S, Montaño AM, Oikawa H, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12(6):931-945
-
(2011)
Curr Pharm Biotechnol
, vol.12
, Issue.6
, pp. 931-945
-
-
Tomatsu, S.1
Montaño, A.M.2
Oikawa, H.3
-
6
-
-
0022971748
-
Exercise testing in children with congenital heart disease
-
Mocellin R. Exercise testing in children with congenital heart disease. Pediatrician. 1986;13(1):18-25
-
(1986)
Pediatrician
, vol.13
, Issue.1
, pp. 18-25
-
-
Mocellin, R.1
-
8
-
-
77954633885
-
Clinical utility of endurance measures for evaluation of treatment in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
-
McDonald A, Steiner R, Kuehl K, Turbeville S. Clinical utility of endurance measures for evaluation of treatment in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr Rehabil Med. 2010;3(2):119-127
-
(2010)
J Pediatr Rehabil Med
, vol.3
, Issue.2
, pp. 119-127
-
-
McDonald, A.1
Steiner, R.2
Kuehl, K.3
Turbeville, S.4
-
9
-
-
84873468725
-
Patientreported outcomes: A new era in clinical research
-
Deshpande PR, Rajan S, Sudeepthi BL, Abdul Nazir CP. Patientreported outcomes: A new era in clinical research. Perspect Clin Res. 2011;2(4):137-144
-
(2011)
Perspect Clin Res
, vol.2
, Issue.4
, pp. 137-144
-
-
Deshpande, P.R.1
Rajan, S.2
Sudeepthi, B.L.3
Abdul Nazir, C.P.4
-
10
-
-
36048995250
-
Patient-reported outcomes to support medical product labeling claims: FDA perspective
-
Patrick DL, Burke LB, Powers JH, et al. Patient-reported outcomes to support medical product labeling claims: FDA perspective. Value Health. 2007;10(suppl 2):S125-S137
-
(2007)
Value Health
, vol.10
-
-
Patrick, D.L.1
Burke, L.B.2
Powers, J.H.3
-
12
-
-
70350721444
-
Quality of life and clinical indicators in heart failure: A multivariate analysis
-
Santos JJAD, Plewka JEA, Brofman PRS. Quality of life and clinical indicators in heart failure: a multivariate analysis. Arq Bras Cardiol. 2009;93(2):149-156
-
(2009)
Arq Bras Cardiol
, vol.93
, Issue.2
, pp. 149-156
-
-
Santos, J.1
Plewka, J.2
Brofman, P.3
-
13
-
-
34249313386
-
Predictors of quality-of-life improvement following pulmonary resection due to lung cancer
-
Saad IAB, Botega NJ, Toro IFC. Predictors of quality-of-life improvement following pulmonary resection due to lung cancer. Sao Paulo Med J. 2007;125(1):46-49
-
(2007)
Sao Paulo Med J
, vol.125
, Issue.1
, pp. 46-49
-
-
Saad, I.1
Botega, N.J.2
Toro, I.3
-
14
-
-
84879902003
-
The 6-minute walk test and person-reported outcomes in boys with duchenne muscular dystrophy and typically developing controls: Longitudinal comparisons and clinically-meaningful changes over one year
-
Henricson E, Abresch R, Han JJ, et al. The 6-minute walk test and person-reported outcomes in boys with duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinically-meaningful changes over one year. PLoS Curr. 2013;5
-
(2013)
Plos Curr
-
-
Henricson, E.1
Abresch, R.2
Han, J.J.3
-
15
-
-
84898046745
-
Burden of disease in patients with Morquio A syndrome: Results from an international patient-reported outcomes survey
-
Hendriksz CJ, Lavery C, Coker M, et al. Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis. 2014;9:32
-
(2014)
Orphanet J Rare Dis
, vol.9
-
-
Hendriksz, C.J.1
Lavery, C.2
Coker, M.3
-
16
-
-
85114075604
-
-
EuroQol Group.EQ-5D-5L UserGuide.Web site, Accessed February 2014
-
EuroQol Group.EQ-5D-5L UserGuide.Web site. http://www.euroqol.org/fileadmin/user_upload/Documenten/PDF/Folders_Flyers/UserGuide_EQ-5D-5.pdf> Accessed February 2014. EuroQol Group. EQ-5D-5L User Guide. Web site. http://www.euroqol.org/about-eq-5d/valuation-of-eq-5d.html Accessed February 2014
-
(2014)
EQ-5D-5L User Guide
-
-
-
17
-
-
27744493202
-
Direct comparison of measures of endurance, mobility, and joint function during enzymereplacement therapy of mucopolysaccharidosis VI (Maroteaux- Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase
-
Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzymereplacement therapy of mucopolysaccharidosis VI (Maroteaux- Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics. 2005;115(6):e681-e689
-
(2005)
Pediatrics
, vol.115
, Issue.6
-
-
Harmatz, P.1
Ketteridge, D.2
Giugliani, R.3
-
19
-
-
77953232381
-
Efficacy of recombinant human a-L-iduronidase (Laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients
-
Tylki-Szymanska A, Marucha J, Jurecka A, Syczewska M, Czartoryska B. Efficacy of recombinant human a-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. J Inherit Metab Dis. 2010;33(2):151-157
-
(2010)
J Inherit Metab Dis
, vol.33
, Issue.2
, pp. 151-157
-
-
Tylki-Szymanska, A.1
Marucha, J.2
Jurecka, A.3
Syczewska, M.4
Czartoryska, B.5
-
20
-
-
0034934531
-
Goniometric techniques for range-ofmotion assessment
-
Gerhardt JJ, Rondinelli RD. Goniometric techniques for range-ofmotion assessment. PhysMedRehabil ClinNAm. 2001;12(3):507-527
-
(2001)
Physmedrehabil Clinnam
, vol.12
, Issue.3
, pp. 507-527
-
-
Gerhardt, J.J.1
Rondinelli, R.D.2
-
21
-
-
34447326455
-
Standard reference for the six-minutewalk test in healthy children aged 7 to 16 years
-
Li AM, Yin J, Au JT, et al. Standard reference for the six-minutewalk test in healthy children aged 7 to 16 years. Am J Respir Crit Care Med. 2007;176(2):174-180
-
(2007)
Am J Respir Crit Care Med
, vol.176
, Issue.2
, pp. 174-180
-
-
Li, A.M.1
Yin, J.2
Au, J.T.3
-
22
-
-
79251535882
-
The 6-min walk distance in healthy subjects: Reference standards from seven countries
-
Casanova C, Celli BR, Barria P, et al. The 6-min walk distance in healthy subjects: reference standards from seven countries. Eur Respir J. 2011;37(1):150-156
-
(2011)
Eur Respir J
, vol.37
, Issue.1
, pp. 150-156
-
-
Casanova, C.1
Celli, B.R.2
Barria, P.3
-
23
-
-
85114064958
-
-
Web site, accessed: February 2015
-
Web site. http://www.cdc.gov/niosh/topics/spirometry/refcalculator.html. Last updated: July 2010, last accessed: February 2015
-
(2010)
-
-
-
24
-
-
43049096056
-
Growth charts for patients affected with Morquio A disease
-
Montaño AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008;146A(10):1286-1295
-
(2008)
Am J Med Genet A
, vol.146A
, Issue.10
, pp. 1286-1295
-
-
Montaño, A.M.1
Tomatsu, S.2
Brusius, A.3
Smith, M.4
Orii, T.5
-
25
-
-
42249090854
-
Exercise testing in severe emphysema: Association with quality of life and lung function
-
Brown CD, Benditt JO, Sciurba FC, et al. Exercise testing in severe emphysema: association with quality of life and lung function. COPD. 2008;5(2):117-124
-
(2008)
COPD
, vol.5
, Issue.2
, pp. 117-124
-
-
Brown, C.D.1
Benditt, J.O.2
Sciurba, F.C.3
-
26
-
-
84881297957
-
The influence of the functional capacity on subjective well-being and quality of life of patients with silicosis
-
Han B, Yan B, Zhao N, et al. The influence of the functional capacity on subjective well-being and quality of life of patients with silicosis. Aging Ment Health. 2013;17(6): 707-713
-
(2013)
Aging Ment Health
, vol.17
, Issue.6
, pp. 707-713
-
-
Han, B.1
Yan, B.2
Zhao, N.3
-
27
-
-
78651110763
-
Subjective and objective assessment of quality of life after chest wall resection
-
Heuker D, Lengele B, Delecluse V, et al. Subjective and objective assessment of quality of life after chest wall resection. Eur J Cardiothorac Surg. 2011;39(1):102-108
-
(2011)
Eur J Cardiothorac Surg
, vol.39
, Issue.1
, pp. 102-108
-
-
Heuker, D.1
Lengele, B.2
Delecluse, V.3
-
28
-
-
40649117704
-
Outcomes for COPD pharmacological trials: From lung function to biomarkers
-
Cazzola M, MacNee W, Martinez FJ, et al. Outcomes for COPD pharmacological trials: from lung function to biomarkers. Eur Respir J. 2008;31(2):416-469
-
(2008)
Eur Respir J
, vol.31
, Issue.2
, pp. 416-469
-
-
Cazzola, M.1
Macnee, W.2
Martinez, F.J.3
-
29
-
-
84921711484
-
The burden endured by caregivers of patients with morquio a syndrome: Results from an international patient-reported outcomes survey
-
Hendriksz CJ, Lavery C, Coker M, et al. The burden endured by caregivers of patients with morquio a syndrome: results from an international patient-reported outcomes survey. J Inborn Error Metab Screen. 2014;2:1-8.
-
(2014)
J Inborn Error Metab Screen
, vol.2
, pp. 1-8
-
-
Hendriksz, C.J.1
Lavery, C.2
Coker, M.3
|