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1

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

Yin-Hsiu Chien, Ni-Chung Lee, Hsiang-Ju Huang, Beth L. Thurberg, Fuu-Jen Tsai, Wuh-Liang Hwu

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 450 KB

english, 2011

2

A Continuum of Histopathologic Disease is Present in Adults with Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

Beth Thurberg, Melissa Wasserstein, Thomas Schiano, Gerald Cox, Margaret McGovern

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

3

Polypoid dysplasia in Barrett's esophagus: A clinicopathologic, immunohistochemical, and molecular study of five cases

Beth L Thurberg, Paul H Duray, Robert D Odze

Journal:

Human Pathology

Year:

1999

Language:

english

File:

PDF, 10.19 MB

english, 1999

4

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III

Sun, Baodong, Fredrickson, Keri, Austin, Stephanie, Tolun, Adviye A., Thurberg, Beth L., Kraus, William E., Bali, Deeksha, Chen, Yuan-Tsong, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 424 KB

english, 2013

5

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

Chien, Y.-H., Lee, N.-C., Thurberg, B. L., Chiang, S.-C., Zhang, X. K., Keutzer, J., Huang, A.-C., Wu, M.-H., Huang, P.-H., Tsai, F.-J., Chen, Y.-T., Hwu, W.-L.

Journal:

Year:

2009

Language:

english

File:

PDF, 1.05 MB

english, 2009

6

Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease

Chien, Yin-Hsiu, Lee, Ni-Chung, Tsai, Yueh-Ju, Thurberg, Beth L., Tsai, Fuu-Jen, Hwu, Wuh-Liang

Journal:

Year:

2014

Language:

english

File:

PDF, 1.72 MB

english, 2014

7

Investigative pathology: leading the post-genomic revolution

Berman, David M, Bosenberg, Marcus W, Orwant, Robin L, Thurberg, Beth L, Draetta, Gulio F, Fletcher, Christopher DM, Loda, Massimo

Journal:

Laboratory Investigation

Year:

2012

Language:

english

File:

PDF, 124 KB

english, 2012

8

High-resolution Light Microscopy (HRLM) and Digital Analysis of Pompe Disease Pathology

Lynch, C. M., Johnson, J., Vaccaro, C., Thurberg, B. L.

Journal:

Journal of Histochemistry & Cytochemistry

Year:

2005

Language:

english

File:

PDF, 229 KB

english, 2005

9

Systemic correction of murine glycogen storage disease type IV by an AAV-mediated gene therapy

Yi, Haiqing, Zhang, Quan, Brooks, Elizabeth D, Yang, Chunyu, Thurberg, Beth L, Kishnani, Priya S, Sun, Baodong

Journal:

Human Gene Therapy

Year:

2016

Language:

english

File:

PDF, 1.64 MB

english, 2016

10

Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease

Baodong Sun, Songtao Li, Andrew Bird, Haiqing Yi, Alex Kemper, Beth L. Thurberg, Dwight D. Koeberl

Journal:

The Journal of Gene Medicine

Year:

2010

Language:

english

File:

PDF, 460 KB

english, 2010

11

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

Thurberg, Beth L, Rennke, Helmut, Colvin, Robert B, Dikman, Steven, Gordon, Ronald E, Collins, A Bernard, Desnick, Robert J, O'Callaghan, Michael

Journal:

Kidney International

Year:

2002

Language:

english

File:

PDF, 2.31 MB

english, 2002

12

Patterns of metal accumulation inLaminaria longicrurisfrom Long Island Sound (Connecticut)

N. Shimshock, G. Sennefelder, M. Dueker, F. Thurberg, C. Yarish

Journal:

Archives of Environmental Contamination and Toxicology

Year:

1992

Language:

english

File:

PDF, 717 KB

english, 1992

13

Effects of copper and cadmium on osmoregulation and oxygen consumption in two species of estuarine crabs

F. P. Thurberg, M. A. Dawson, R. S. Collier

Journal:

Year:

1973

Language:

english

File:

PDF, 514 KB

english, 1973

14

Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases

Xin Sheen Zhang, William Brondyk, John T. Lydon, Beth L. Thurberg, Peter A. Piepenhagen

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 1.14 MB

english, 2011

15

Monitoring the 3-Year Efficacy of Enzyme Replacement Therapy in Fabry Disease by Repeated Skin Biopsies

Thurberg, Beth L., Randolph Byers, H., Granter, Scott R., Phelps, Robert G., Gordon, Ronald E., O'Callaghan, Michael

Journal:

The Journal of Investigative Dermatology

Year:

2004

Language:

english

File:

PDF, 2.42 MB

english, 2004

16

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

Thurberg, Beth L, Lynch Maloney, Colleen, Vaccaro, Charles, Afonso, Kendra, Tsai, Anne Chun-Hui, Bossen, Edward, Kishnani, Priya S, O'Callaghan, Michael

Journal:

Laboratory Investigation

Year:

2006

Language:

english

File:

PDF, 885 KB

english, 2006

17

Physiological response of the mud crab,Eurypanopeus depressusto cadmium

R. S. Collier, J. E. Miller, M. A. Dawson, F. P. Thurberg

Journal:

Bulletin of Environmental Contamination and Toxicology

Year:

1973

Language:

english

File:

PDF, 236 KB

english, 1973

18

OCCURRENCE OF CHOLINE ESTERS IN THE MARINE DINOFLAGELLATE AMPHIDINIUM CARTERI

Richard F. Taylor, Miyoshi Ikawa, John J. Sasner Jr., Frederick P. Thurberg, Kenneth K. Andersen

Journal:

Journal of Phycology

Year:

1974

File:

PDF, 1.61 MB

1974

19

Physiological response of juvenile striped bass,Morone saxatilis, to low levels of cadmium and mercury

Margaret A. Dawson, Edith Gould, Frederick P. Thurberg and Anthony Calabrese

Journal:

Chesapeake Science

Year:

1977

Language:

english

File:

PDF, 540 KB

english, 1977

20

Biological activity of a cell extract from the dinoflagellate,Amphidinium carteri

Frederick P. Thurberg and John J. Sasner, Jr.

Journal:

Chesapeake Science

Year:

1973

Language:

english

File:

PDF, 425 KB

english, 1973

21

Comparative reproductive success of winter flounder in Long Island Sound: A three-year study (biology, biochemistry, and chemistry)

D. A. Nelson, J. E. Miller, D. Rusanowsky, R. A. Greig, G. R. Sennefelder, R. Mercaldo-Allen, C. Kuropat, E. Gould, F. P. Thurberg and A. Calabrese

Journal:

Estuaries and Coasts

Year:

1991

Language:

english

File:

PDF, 1.38 MB

english, 1991

22

Mice with elevated muscle glycogen stores do not have improved exercise performance

Bartholomew A. Pederson, Carlie R. Cope, Jose M. Irimia, Jill M. Schroeder, Beth L. Thurberg, Anna A. DePaoli-Roach, Peter J. Roach

Journal:

Biochemical and Biophysical Research Communications

Year:

2005

Language:

english

File:

PDF, 416 KB

english, 2005

23

Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature

Beth L. Thurberg, Juan M. Politei

Journal:

Human Pathology

Year:

2012

Language:

english

File:

PDF, 1.63 MB

english, 2012

24

Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

Priya Sunil Kishnani, Marc Nicolino, Thomas Voit, R. Curtis Rogers, Anne Chun-Hui Tsai, John Waterson, Gail E. Herman, Andreas Amalfitano, Beth L. Thurberg, Susan Richards, Mark Davison, Deyanira Corz

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 234 KB

english, 2006

25

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

Yin-Hsiu Chien, Ni-Chung Lee, Pei-Hsin Huang, Wang-Tso Lee, Beth L. Thurberg, Wuh-Liang Hwu

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 797 KB

english, 2012

26

Enzyme replacement therapy in the mouse model of Pompe disease

N Raben, M Danon, A.L Gilbert, S Dwivedi, B Collins, B.L Thurberg, R.J Mattaliano, K Nagaraju, P.H Plotz

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 435 KB

english, 2003

27

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

Michael L. Hawes, William Kennedy, Michael W. O’Callaghan, Beth L. Thurberg

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.09 MB

english, 2007

28

96. Pathology of Fabry nephropathy: Renal fibrosis may begin in adolescence

Beth Thurberg, Helmut Rennke, Robert Colvin, Steven Dikman, Ronald Gordon, Michael O’Callaghan

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

29

Biochemical and pharmacological characterization of different recombinant acid α-glucosidase preparations evaluated for the treatment of Pompe disease

A.J. McVie-Wylie, K.L. Lee, H. Qiu, X. Jin, H. Do, R. Gotschall, B.L. Thurberg, C. Rogers, N. Raben, M. O’Callaghan, W. Canfield, L. Andrews, J.M. McPherson, R.J. Mattaliano

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.16 MB

english, 2008

30

Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann–Pick disease

Robin J. Ziegler, Claire Brown, Christine M. Barbon, Anne Marie D’Angona, Edward H. Schuchman, Laura Andrews, Beth L. Thurberg, John M. McPherson, Kenneth P. Karey, Seng H. Cheng

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 604 KB

english, 2009

31

A phase 1 trial of recombinant human acid Sphingomyelinase (rhASM) Enzyme replacement therapy in adults with Non-Neuronopathic ASM deficiency (ASMD Niemann-Pick B)

Margaret McGovern, Melissa Wasserstein, Brian Kirmse, Lane Duvall, Thomas Schiano, Beth Thurberg, Susan Richards, Gerald Cox

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 66 KB

english, 2011

32

Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

Areeg H. El-Gharbawy, Gifty Bhat, Jaime E. Murillo, Beth L. Thurberg, Christoph Kampmann, Karl-Eugen Mengel, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 733 KB

english, 2011

33

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

Dwight D. Koeberl, Songtao Li, Jian Dai, Beth L. Thurberg, Deeksha Bali, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.19 MB

english, 2012

34

Beta2 Agonists Enhance Efficacy of Enzyme Replacement Therapy in Murine Pompe Disease

Dwight Koeberl, Songtao Li, Jian Dai, Beth Thurberg, Deeksha Bali, Priya Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

35

Insights into the Pathophysiology of Pompe Disease

Journal:

Clinical Therapeutics

Year:

2008

Language:

english

File:

PDF, 53 KB

english, 2008

36

Use of direct fluorescence labeling and confocal microscopy to determine the biodistribution of two protein therapeutics, Cerezyme® and Ceredase®

Peter A. Piepenhagen, Scott Vanpatten, Heather Hughes, James Waire, James Murray, Laura Andrews, Tim Edmunds, Michael O'Callaghan, Beth L. Thurberg

Journal:

Microscopy Research and Technique

Year:

2010

Language:

english

File:

PDF, 628 KB

english, 2010

37

Regulation of apoprotein E secretion

G.S. Getz, S. Ye, B. Thurberg, C. Reardon-Alulis

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 162 KB

english, 1994

38

Effects of metals on the behaviour and oxygen consumption of the mud snail

John R MacInnes, Frederick P Thurberg

Journal:

Marine Pollution Bulletin

Year:

1973

Language:

english

File:

PDF, 244 KB

english, 1973

39

Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Lisa D. Hobson-Webb, Alan D. Proia, Beth L. Thurberg, Suhrad Banugaria, Sean N. Prater, Priya S. Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.49 MB

english, 2012

40

Respiratory response of cunners to silver

Frederick P. Thurberg, Ries S. Collier

Journal:

Marine Pollution Bulletin

Year:

1977

Language:

english

File:

PDF, 233 KB

english, 1977

41

Physiological and chemical studies on Gymnodinium breve davis toxin

J.J. Sasner Jr., M. Ikawa, F. Thurberg, M. Alam

Journal:

Year:

1972

Language:

english

File:

PDF, 790 KB

english, 1972

42

Ozone inactivation of a Gymnodinium breve toxin

W.J. Blogoslawski, F.P. Thurberg, M.A. Dawson

Journal:

Year:

1973

Language:

english

File:

PDF, 169 KB

english, 1973

43

CD52 over-expression affects rituximab-associated complement-mediated cytotoxicity but not antibody-dependent cellular cytotoxicity: Preclinical evidence that targeting CD52 with alemtuzumab may reverse acquired resistance to rituximab in non-Hodgkin lymphoma

Cruz, Raymond I., Hernandez-Ilizaliturri, Francisco J., Olejniczak, Scott, Deeb, George, Knight, Joy, Wallace, Paul, Thurberg, Beth L., Kennedy, William, Czuczman, Myron S.

Journal:

Leukemia and Lymphoma

Year:

2007

Language:

english

File:

PDF, 1.61 MB

english, 2007

44

Correction of glycogen storage disease type III with rapamycin in a canine model

Yi, Haiqing, Brooks, Elizabeth D., Thurberg, Beth L., Fyfe, John C., Kishnani, Priya S., Sun, Baodong

Journal:

Journal of Molecular Medicine

Year:

2014

Language:

english

File:

PDF, 1.00 MB

english, 2014

45

Replacing acid ?-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers

RABEN, N, FUKUDA, T, GILBERT, A, DEJONG, D, THURBERG, B, MATTALIANO, R, MEIKLE, P, HOPWOOD, J, NAGASHIMA, K, NAGARAJU, K

Journal:

Molecular Therapy

Year:

2005

Language:

english

File:

PDF, 656 KB

english, 2005

46

A potential mechanism for hepatic clearance of plasma chylomicron remnants

Ye, S.Q., Reardon, C.A., Thurberg, B.L., Han, Y., Cabana, V.G., Getz, G.S.

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 304 KB

english, 1994

47

An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)

Jones, Simon, Wasserstein, Melissa, Soran, Handrean, Breen, Catherine, Thurberg, Beth, Culm-Merdek, Kerry, Lippa, Natalie, Pimlott, Brenda, Cunningham, Andrew

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 55 KB

english, 2014

48

Changes in oxygen consumption of the american lobster, homarus american us, during the molt cycle

Penkoff, S.J, Thurberg, F.P

Journal:

Comparative Biochemistry and Physiology Part A: Physiology

Year:

1982

Language:

english

File:

PDF, 211 KB

english, 1982

49

Coughing: A new description of ventilatory reversals produced by the lobster, Homarus americanus

Bill, Robert G, Thurberg, Frederick P

Journal:

Comparative Biochemistry and Physiology Part A: Physiology

Year:

1985

Language:

english

File:

PDF, 438 KB

english, 1985

50

Renal structural-functional relationship (SFR) studies suggest that podocyte GL-3 accumulation predicts urine protein creatinine ratio in Fabry disease (FD) nephropathy (FDN)

Najafian, Behzad, Whitley, Chester, Thurberg, Beth, Svarstad, Einar, Tondel, Camilla, Gubler, Marie Claire, West, Michael, Mauer, Michael

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 92 KB

english, 2013