Newborn screening for lysosomal storage diseases

被引：0

作者：

Bodamer, O. A. ^{[1
]}

机构：

[1] Univ Childrens Hosp Salzburg, Salzburg, Austria

来源：

INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS | 2010年 / 48卷

关键词：

ENZYME-REPLACEMENT THERAPY; ACID ALPHA-GLUCOSIDASE; KRABBE-DISEASE; POMPE-DISEASE; OPEN-LABEL; DISORDERS; EFFICACY;

D O I：

暂无

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

引用

页码：S18 / S19

页数：2

共 16 条

[1] The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease [J].

Altarescu, G ;

Hill, S ;

Wiggs, E ;

Jeffries, N ;

Kreps, C ;

Parker , CC ;

Brady, RO ;

Barton, NW ;

Schiffmann, R ;

Bannarjee, TK ;

Crutchfield, K ;

Frei, K ;

McKee, MA ;

Moore, DF ;

Tournay, A .

JOURNAL OF PEDIATRICS, 2001, 138 (04) :539-547

[2] Newborn screening for Pompe disease by measuring acid α-glucosidase activity using tandem mass spectrometry [J].

Dajnoki, Angela ;

Muehl, Adolf ;

Fekete, Gyoergy ;

Keutzer, Joan ;

Orsini, Joe ;

Dejesus, Victor ;

Zhang, X. Kate ;

Bodamer, Olaf A. .

CLINICAL CHEMISTRY, 2008, 54 (10) :1624-1629

[3] Newborn Screening for Krabbe Disease: the New York State Model [J].

Duffner, Patricia K. ;

Caggana, Michele ;

Orsini, Joseph J. ;

Wenger, David A. ;

Patterson, Marc C. ;

Crosley, Carl J. ;

Kurtzberg, Joanne ;

Arnold, Georgianne L. ;

Escolar, Maria L. ;

Adams, Darius J. ;

Andriola, Mary R. ;

Aron, Alan M. ;

Cialfaloni, Emma ;

Djukic, Alexandra ;

Erbe, Richard W. ;

Galvin-Parton, Patricia ;

Helton, Laura E. ;

Kolodny, Edwin H. ;

Kosofsky, Barry E. ;

Kronn, David F. ;

Kwon, Jennifer M. ;

Levy, Paul A. ;

Miller-Horn, Jill ;

Naidich, Thomas P. ;

Pellegrino, Joan E. ;

Provenzale, James M. ;

Rothman, Stanley J. ;

Wasserstein, Melissa P. .

PEDIATRIC NEUROLOGY, 2009, 40 (04) :245-252

[4] Screening for lysosomal storage disorders - A clinical perspective [J].

Fletcher, Janice M. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (2-3) :405-408

[5] Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement 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 [J].

Harmatz, P ;

Ketteridge, D ;

Giugliani, R ;

Guffon, N ;

Teles, EL ;

Miranda, MCS ;

Yu, ZF ;

Swiedler, SJ ;

Hopwood, JJ .

PEDIATRICS, 2005, 115 (06) :E681-E689

[6] We need expanded newborn screening [J].

Howell, RR .

PEDIATRICS, 2006, 117 (05) :1800-1805

[7] Enzyme-replacement therapy in mucopolysaccharidosis I. [J].

Kakkis, ED ;

Muenzer, J ;

Tiller, GE ;

Waber, L ;

Belmont, J ;

Passage, M ;

Izykowski, B ;

Phillips, J ;

Doroshow, R ;

Walot, I ;

Hoft, R ;

Yu, KT ;

Okazaki, S ;

Lewis, D ;

Lachman, R ;

Thompson, JN .

NEW ENGLAND JOURNAL OF MEDICINE, 2001, 344 (03) :182-188

[8] Newborn screening for Pompe disease: Synthesis of the evidence and development of screening recommendations [J].

Kemper, Alex R. ;

Hwu, Wuh-Liang ;

Lloyd-Puryear, Michele ;

Kishnani, Priya S. .

PEDIATRICS, 2007, 120 (05) :E1327-E1334

[9] Recombinant human acid α-glucosidase -: Major clinical benefits in infantile-onset Pompe disease [J].

Kishnani, P. S. ;

Corzo, D. ;

Nicolino, M. ;

Byrne, B. ;

Mandel, H. ;

Hwu, W. L. ;

Leslie, N. ;

Levine, J. ;

Spencer, C. ;

McDonald, M. ;

Li, J. ;

Dumontier, J. ;

Halberthal, M. ;

Chien, Y. H. ;

Hopkin, R. ;

Vijayaraghavan, S. ;

Gruskin, D. ;

Bartholomew, D. ;

van der Ploeg, A. ;

Clancy, J. P. ;

Parini, R. ;

Morin, G. ;

Beck, M. ;

De la Gastine, G. S. ;

Jokic, M. ;

Thurberg, B. ;

Richards, S. ;

Bali, D. ;

Davison, M. ;

Worden, M. A. ;

Chen, Y. T. ;

Wraith, J. E. .

NEUROLOGY, 2007, 68 (02) :99-109

[10] Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report [J].

Muenzer, J ;

Lamsa, JC ;

Garcia, A ;

Dacosta, J ;

Garcia, J ;

Treco, DA .

ACTA PAEDIATRICA, 2002, 91 :98-99

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