-
1
-
-
0033631258
-
Incidence of inborn errors of metabolism in British Columbia, 1969–1996
-
COI: 1:STN:280:DC%2BD3c%2FosFersQ%3D%3D, PID: 10617747
-
Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics 105(1):e10
-
(2000)
Pediatrics
, vol.105
, Issue.1
, pp. 10
-
-
Applegarth, D.A.1
Toone, J.R.2
Lowry, R.B.3
-
2
-
-
31644446680
-
Cumulative incidence rates of the mucopolysaccharidoses in Germany
-
COI: 1:STN:280:DC%2BD28%2FksF2rsw%3D%3D, PID: 16435194
-
Baehner F, Schmiedeskamp C, Krummenauer F et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28(6):1011–1017
-
(2005)
J Inherit Metab Dis
, vol.28
, Issue.6
, pp. 1011-1017
-
-
Baehner, F.1
Schmiedeskamp, C.2
Krummenauer, F.3
-
3
-
-
0030818755
-
Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism
-
COI: 1:STN:280:DyaK2svhtFajug%3D%3D, PID: 9266201
-
Coelho JC, Wajner M, Burin MG et al (1997) Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr 156(8):650–654
-
(1997)
Eur J Pediatr
, vol.156
, Issue.8
, pp. 650-654
-
-
Coelho, J.C.1
Wajner, M.2
Burin, M.G.3
-
4
-
-
0000907753
-
Human genetics. Jewish lysosomes
-
COI: 1:STN:280:DyaK2c7ntlehuw%3D%3D, PID: 8127362
-
Diamond JM (1994) Human genetics. Jewish lysosomes. Nature 368(6469):291–292
-
(1994)
Nature
, vol.368
, Issue.6469
, pp. 291-292
-
-
Diamond, J.M.1
-
5
-
-
84961737878
-
-
Encyclopaedia Britannica Online 2009. Poland. Cited 20 Feb 2009
-
(2009)
Poland. Cited
, pp. 20
-
-
-
6
-
-
84940008247
-
-
GUS Central Statistical Office 2014
-
GUS Central Statistical Office 2014. Available online at: http://stat.gov.pl/.
-
-
-
-
7
-
-
84904133859
-
Treatment of lysosomal storage disorders: successes and challenges
-
COI: 1:CAS:528:DC%2BC2cXotValt7w%3D, PID: 24820227
-
Hollak CE, Wijburg FA (2014) Treatment of lysosomal storage disorders: successes and challenges. J Inherit Metab Dis 37(4):587–598
-
(2014)
J Inherit Metab Dis
, vol.37
, Issue.4
, pp. 587-598
-
-
Hollak, C.E.1
Wijburg, F.A.2
-
8
-
-
36849043985
-
Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases
-
PID: 17998597
-
Jakóbkiewicz-Banecka J, Wegrzyn A, Wegrzyn G (2007) Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases. J Appl Genet 48(4):383–388
-
(2007)
J Appl Genet
, vol.48
, Issue.4
, pp. 383-388
-
-
Jakóbkiewicz-Banecka, J.1
Wegrzyn, A.2
Wegrzyn, G.3
-
9
-
-
82255179455
-
Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype
-
COI: 1:CAS:528:DC%2BC3MXhsFertL%2FI, PID: 21917494
-
Jurecka A, Golda A, Opoka-Winiarska V et al (2011) Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype. Mol Genet Metab 104(4):695–699
-
(2011)
Mol Genet Metab
, vol.104
, Issue.4
, pp. 695-699
-
-
Jurecka, A.1
Golda, A.2
Opoka-Winiarska, V.3
-
10
-
-
84856111720
-
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia
-
COI: 1:CAS:528:DC%2BC38XhtFKqsr4%3D, PID: 22133300
-
Jurecka A, Piotrowska E, Cimbalistiene L et al (2012) Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Mol Genet Metab 105(2):237–243
-
(2012)
Mol Genet Metab
, vol.105
, Issue.2
, pp. 237-243
-
-
Jurecka, A.1
Piotrowska, E.2
Cimbalistiene, L.3
-
11
-
-
84926195429
-
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe
-
COI: 1:CAS:528:DC%2BC2cXhs1eisrbI, PID: 24373060
-
Jurecka A, Zakharova E, Cimbalistiene L et al (2014) Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. Pediatr Int 56(4):520–525
-
(2014)
Pediatr Int
, vol.56
, Issue.4
, pp. 520-525
-
-
Jurecka, A.1
Zakharova, E.2
Cimbalistiene, L.3
-
12
-
-
0015242776
-
Relative frequency of the Hurler and Hunter syndromes
-
COI: 1:STN:280:DyaE3M%2FnslChtA%3D%3D, PID: 4250044
-
Lowry RB, Renwick DH (1971) Relative frequency of the Hurler and Hunter syndromes. N Engl J Med 284(4):221–222
-
(1971)
N Engl J Med
, vol.284
, Issue.4
, pp. 221-222
-
-
Lowry, R.B.1
Renwick, D.H.2
-
13
-
-
0025170991
-
An update on the frequency of mucopolysaccharide syndromes in British Columbia
-
COI: 1:STN:280:DyaK3czmvVWjsw%3D%3D, PID: 2118475
-
Lowry RB, Applegarth DA, Toone JR et al (1990) An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 85(3):389–390
-
(1990)
Hum Genet
, vol.85
, Issue.3
, pp. 389-390
-
-
Lowry, R.B.1
Applegarth, D.A.2
Toone, J.R.3
-
14
-
-
53749104461
-
Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence
-
PID: 18681890
-
Malm G, Lund AM, Månsson JE et al (2008) Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr 97(11):1577–1581
-
(2008)
Acta Paediatr
, vol.97
, Issue.11
, pp. 1577-1581
-
-
Malm, G.1
Lund, A.M.2
Månsson, J.E.3
-
15
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
COI: 1:STN:280:DyaK1M7hsFSguw%3D%3D, PID: 9918480
-
Meikle PJ, Hopwood JJ, Clague AE et al (1999) Prevalence of lysosomal storage disorders. JAMA 281(3):249–254
-
(1999)
JAMA
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
-
16
-
-
0031447880
-
Incidence of the mucopolysaccharidoses in Northern Ireland
-
COI: 1:STN:280:DyaK1c7gt1ynsg%3D%3D, PID: 9439667
-
Nelson J (1997) Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101(3):355–358
-
(1997)
Hum Genet
, vol.101
, Issue.3
, pp. 355-358
-
-
Nelson, J.1
-
17
-
-
0344033744
-
Incidence of the mucopolysaccharidoses in Western Australia
-
PID: 14608657
-
Nelson J, Crowhurst J, Carey B et al (2003) Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 123A(3):310–313
-
(2003)
Am J Med Genet A
, vol.123A
, Issue.3
, pp. 310-313
-
-
Nelson, J.1
Crowhurst, J.2
Carey, B.3
-
18
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver CR, Beaudet AL, Sly WS, Valle D, (eds), McGraw-Hill, New York:
-
Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 3421–3452
-
(2001)
The metabolic and molecular basis of inherited disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
19
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
COI: 1:STN:280:DyaK1MvgvVantQ%3D%3D, PID: 10480370
-
Poorthuis BJ, Wevers RA, Kleijer WJ et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105(1–2):151–156
-
(1999)
Hum Genet
, vol.105
, Issue.1-2
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
-
20
-
-
77956060447
-
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
-
PID: 20490927
-
Poupetová H, Ledvinová J, Berná L et al (2010) The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 33(4):387–396
-
(2010)
J Inherit Metab Dis
, vol.33
, Issue.4
, pp. 387-396
-
-
Poupetová, H.1
Ledvinová, J.2
Berná, L.3
-
22
-
-
0035094136
-
The prevalence and diagnosis of lysosomal storage diseases in Poland
-
PID: 11317653
-
Tylki-Szymańska A, Czartoryska B, Ługowska A et al (2001) The prevalence and diagnosis of lysosomal storage diseases in Poland. Eur J Pediatr 160(4):261–262
-
(2001)
Eur J Pediatr
, vol.160
, Issue.4
, pp. 261-262
-
-
Tylki-Szymańska, A.1
Czartoryska, B.2
Ługowska, A.3
-
23
-
-
84961737763
-
SISA binomial
-
Uitenbroek DG (1997) SISA binomial. Available online at: http://www.quantitativeskills.com/sisa/distributions/binomial.htm. Accessed 15 Jan 2012
-
(1997)
Available online at:
-
-
Uitenbroek, D.G.1
-
24
-
-
0344546355
-
The Sanfilippo syndrome: a clinical and genetical study of 75 patients in The Netherlands. Doctoral thesis
-
van de Kamp JJP (1979) The Sanfilippo syndrome: a clinical and genetical study of 75 patients in The Netherlands. Doctoral thesis, University of Leiden
-
(1979)
University of Leiden
-
-
van de Kamp, J.J.P.1
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