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1

Ashkenazi Jewish genetic disorders

Journal:

Familial Cancer

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

2

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Oglesbee, Devin, He, Miao, Majumder, Nilanjana, Vockley, Jerry, Ahmad, Ayesha, Angle, Brad, Burton, Barbara, Charrow, Joel, Ensenauer, Regina, Ficicioglu, Can H, Keppen, Laura Davis, Marsden, Deborah,

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 658 KB

english, 2007

3

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial

Charrow, Joel, Fraga, Cristina, Gu, Xuefan, Ida, Hiroyuki, Longo, Nicola, Lukina, Elena, Nonino, Alexandre, Gaemers, Sebastiaan J.M., Jouvin, Marie-Helene, Li, Jing, Wu, Yaoshi, Xue, Yong, Peterschmit

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 653 KB

english, 2018

4

Long-term stability in randomized and non-randomized patients in the phase 3 randomized, double-blind EDGE trial of once- versus twice-daily dosing of eliglustat in patients with Gaucher disease type 1

Charrow, Joel, Fraga, Cristina, Gu, Xuefan, Ida, Hiroyuki, Longo, Nicola, Lukina, Elena, Nonino, Alexandre, Gaemers, Sebastiaan J.M., Jouvin, Marie-Helene, Li, Jing, Wu, Yaoshi, Xue, Yong, Judith Pete

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 51 KB

english, 2018

5

Documented Transient Third-Degree Atrioventricular Block and Asystole in a Child with Familial Dysautonomia

Amichay Rotstein, Joel Charrow, Barbara J. Deal

Journal:

Pediatric Cardiology

Year:

2008

Language:

english

File:

PDF, 267 KB

english, 2008

6

Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry

Weinreb, Neal J, Batista, Julie, Andersson, Hans C, Balwani, Manisha, Andrew Burrow, T., Charrow, Joel, Kaplan, Paige, Khan, Aneal, Kishnani, Priya S, Kolodny, Edwin H, Rosenbloom, Barry E, Ronald Sco

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

7

Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Neal J. Weinreb, Mario C. Aggio, Hans C. Andersson, Generoso Andria, Joel Charrow, Joe T.R. Clarke, Anders Erikson, Pilar Giraldo, Jack Goldblatt, Carla Hollak, Hiroyuki Ida, Paige Kaplan, Edwin H. Ko

Journal:

Seminars in Hematology

Year:

2004

Language:

english

File:

PDF, 116 KB

english, 2004

8

Fostering Humanism in Medicine through Art and Reflection

Gooding, Holly C., Quinn, Mariah, Martin, Barbara, Charrow, Alexandra, Katz, Joel T.

Journal:

The Journal of Museum Education

Year:

2016

Language:

english

File:

PDF, 771 KB

english, 2016

9

Intracranial gliomas in neurofibromatosis type 1

Listernick, Robert, Charrow, Joel, Gutmann, David H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 343 KB

english, 1999

10

Neurofibromatosis type 1 and high-grade tumors of the central nervous system

Amy Rosenfeld, Robert Listernick, Joel Charrow, Stewart Goldman

Journal:

Child's Nervous System

Year:

2010

Language:

english

File:

PDF, 91 KB

english, 2010

11

Women and Fabry disease: Recommendations and compliance

Kristen De Berg, Joel Charrow, Dania DAchille, Katherine Kim, Suzanne O'Neill

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 60 KB

english, 2011

12

Neurofibromatosis type 1 in childhood

Robert Listernick, Joel Charrow

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 899 KB

english, 1990

13

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome

Charrow, Joel, Alden, Tord D., Breathnach, Catherine Ann R., Frawley, Geoffrey P., Hendriksz, Christian J., Link, Bianca, Mackenzie, William G., Manara, Renzo, Offiah, Amaka C., Solano, Martha L., The

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

14

Dissipating the Foggy Myth of the Black Cloud-Reply

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1994

Language:

english

File:

PDF, 109 KB

english, 1994

15

Transformation in Pre-treatment Manifestations of Gaucher Disease Type 1 during Two Decades of Alglucerase/Imiglucerase Enzyme Replacement Therapy in the International Collaborative Gaucher Group (ICGG) Registry

Mistry, Pramod K., Batista, Julie L., Andersson, Hans C., Balwani, Manisha, Burrow, Thomas Andrew, Charrow, Joel, Kaplan, Paige, Khan, Aneal, Kishnani, Priya S., Kolodny, Edwin H., Rosenbloom, Barry,

Journal:

American Journal of Hematology

Year:

2017

Language:

english

File:

PDF, 1.06 MB

english, 2017

16

Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood

Jensen, Sally E., Patel, Zabin S., Listernick, Robert, Charrow, Joel, Lai, Jin-Shei

Journal:

Journal of Clinical Psychology in Medical Settings

Year:

2018

Language:

english

File:

PDF, 1.22 MB

english, 2018

17

Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses

Joel Charrow, Helen J. Binns

Journal:

Clinica Chimica Acta

Year:

1986

Language:

english

File:

PDF, 676 KB

english, 1986

18

Pseudodeficiency of alpha-iduronidase is a common finding identified from newborn screening in the state of Illinois

Keating, Katherine G., Whiteaker, Lauren, Corkery, Jill, Charrow, Joel, Burton, Barbara

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

19

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Neal J Weinreb, Joel Charrow, Hans C Andersson, Paige Kaplan, Edwin H Kolodny, Pramod Mistry, Gregory Pastores, Barry E Rosenbloom, C.Ronald Scott, Rebecca S Wappner, Ari Zimran

Journal:

The American Journal of Medicine

Year:

2002

Language:

english

File:

PDF, 150 KB

english, 2002

20

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

Ans T. van der Ploeg, Richard Barohn, Lisa Carlson, Joel Charrow, Paula R. Clemens, Robert J. Hopkin, Priya S. Kishnani, Pascal Laforêt, Claire Morgan, Sharon Nations, Alan Pestronk, Horacio Plotkin,

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 392 KB

english, 2012

21

Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan

Lai, Jin-Shei, Jensen, Sally E., Patel, Zabin S., Listernick, Robert, Charrow, Joel

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 233 KB

english, 2016

22

The Jansen type of metaphyseal chondrodysplasia: Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult

Dr. Joel Charrow, Andrew K. Poznanski, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 440 KB

english, 1984

23

Continued efficacy of cerezyme after 10 years of treatment

Neal Weinreb, Manisha Balwani, Joel Charrow, Alexander Cole, Radhika Tripuraneni, Jacobo Villalobos, Marcelo Kerstenetzky, Carla Hollak

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 56 KB

english, 2011

24

Gaucher Disease

Charrow, Joel, Esplin, Joan A., Gribble, T. John, Kaplan, Paige, Kolodny, Edwin H., Pastores, Gregory M., Scott, C. Ronald, Wappner, Rebecca S., Weinreb, Neal J., Wisch, Jeffrey S.

Journal:

Archives of Internal Medicine

Year:

1998

Language:

english

File:

PDF, 95 KB

english, 1998

25

Long-term clinical outcomes in type 1 Gaucher disease following 10

Weinreb, Neal J., Goldblatt, Jack, Villalobos, Jacobo, Charrow, Joel, Cole, J. Alexander, Kerstenetzky, Marcelo, Dahl, Stephan, Hollak, Carla

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 210 KB

english, 2013

26

Anti-proteinuric therapy and Fabry nephropathy; factors associated with preserved kidney function during agalsidase-beta therapy

Warnock, David G., Thomas, Christie P., Vujkovac, Bojan, Campbell, Ruth C., Charrow, Joel, Laney, Dawn A., Jackson, Leslie L., Wilcox, William R., Wanner, Christoph

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 54 KB

english, 2016

27

Neural crest anomaly syndromes in children with spina bifida

Nye, Jeffrey S., Mclone, David G., Charrow, Joel, Hayes, Erin A.

Journal:

Year:

1999

Language:

english

File:

PDF, 139 KB

english, 1999

28

Carboplatin-induced regression of an optic pathway tumor in a child with neurofibromatosis

Joel Charrow, Robert Listernick, Mark J. Greenwald, Lakshmi Das, Mary Ann Radkowski

Journal:

Pediatric Blood & Cancer

Year:

1993

Language:

english

File:

PDF, 1.18 MB

english, 1993

29

Translocations in Prader-WiIIi syndrome

Joel Charrow, Nancy Balkin, Maimon M. Cohen

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 265 KB

english, 1983

30

Early Speech Delay and Hepatitis as Presenting Signs of Homocystinuria

Mack, Cara L., Emerick, Karan M., Kovarik, Paula, Charrow, Joel

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2001

Language:

english

File:

PDF, 238 KB

english, 2001

31

Natural history of optic pathway tumors in children with neurofibromatosis type 1: A longitudinal study

Robert Listernick, Joel Charrow, Mark Greenwald, Marilyn Mets

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 403 KB

english, 1994

32

Effects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment

Cox, Timothy M., Charrow, Joel, Lukina, Elena, Mistry, Pramod, Marinakis, Theodore, Foster, Meredith, Gaemers, Sebastiaan J.M., Judith Peterschmitt, M.

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 50 KB

english, 2019

33

The genetics of tethered cord syndrome

Alexander G. Bassuk, David Craig, Ali Jalali, Abhishek Mukhopadhyay, Francine Kim, Joel Charrow, Uzel Gulbu, Leon G. Epstein, Robin Bowman, David Mclone, Hisato Yagi, Rumiko Matsuoka, Dietrich A. Step

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 96 KB

english, 2005

34

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Joel Charrow, Hans C. Andersson, Paige Kaplan, Edwin H. Kolodny, Pramod Mistry, Gregory Pastores, Ainu Prakash-Cheng, Barry E. Rosenbloom, C.Ronald Scott, Rebecca S. Wappner, Neal J. Weinreb

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 162 KB

english, 2004

35

Precocious puberty in children with neurofibromatosis type 1

Reema Habiby, Bernard Silverman, Robert Listernick, Joel Charrow

Journal:

The Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 376 KB

english, 1995

36

Emergence of optic pathway gliomas in children with neurofibromatosis type 1 after normal neuroimaging results

Robert Listernick, Joel Charrow, Mark Greenwald

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 1.67 MB

english, 1992

37

Optic gliomas in children with neurofibromatosis type 1

Robert Listernick, Joel Charrow, Mark J. Greenwald, Nancy B. Esterly

Journal:

The Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 429 KB

english, 1989

38

Newborn screening for Fabry disease leads to diagnosis in a symptomatic maternal relative

Widera, Shanna, Charrow, Joel, Burton, Barbara, Helgeson, Maria

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 66 KB

english, 2013

39

Prevalence of Type 1 Gaucher Disease in the United States

Weinreb, Neal J., Andersson, Hans C., Banikazemi, Maryam, Barranger, John, Beutler, Ernest, Charrow, Joel, Grabowski, Gregory A., Hollak, Carla E. M., Kaplan, Paige, Mankin, Henry, Mistry, Pramod K.,

Journal:

Archives of Internal Medicine

Year:

2008

Language:

english

File:

PDF, 56 KB

english, 2008

40

Newborn screening for lysosomal disorders in Illinois

Burton, Barbara K., Hoganson, George E., Charrow, Joel, Tinkle, Brad, Dimmock, David, Waggoner, Darrel, Grange, Dorothy, Nash, Claudia, Becker, Jean, Shao, Rong, Basheeruddin, Khaja, Dizikes, George

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 73 KB

english, 2016

41

Knowledge without truth: Screening for complications of neurofibromatosis type 1 in childhood

Robert Listernick, Joel Charrow

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 46 KB

english, 2004

42

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

GregoryA. Grabowski, Generoso Andria, Antonio Baldellou, PaulineE. Campbell, Joel Charrow, IanJ. Cohen, ChrisM. Harris, Paige Kaplan, Eugen Mengel, Miguel Pocovi, Ashok Vellodi

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 235 KB

english, 2004

43

Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10

Weinreb, Neal J., Goldblatt, Jack, Villalobos, Jacobo, Charrow, Joel, Cole, J. Alexander, Kerstenetzky, Marcelo, Dahl, Stephan, Hollak, Carla

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 51 KB

english, 2014

44

Genetics Professionals’ Opinions of Whole-Genome Sequencing in the Newborn Period

Ulm, Elizabeth, Feero, W. Gregory, Dineen, Richard, Charrow, Joel, Wicklund, Catherine

Journal:

Journal of Genetic Counseling

Year:

2015

Language:

english

File:

PDF, 519 KB

english, 2015

45

Carrier screening in the era of expanding genetic technology

Arjunan, Aishwarya, Litwack, Karen, Collins, Nick, Charrow, Joel

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 342 KB

english, 2016

46

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

Ortiz, Alberto, Abiose, Ademola, Bichet, Daniel G, Cabrera, Gustavo, Charrow, Joel, Germain, Dominique P, Hopkin, Robert J, Jovanovic, Ana, Linhart, Aleš, Maruti, Sonia S, Mauer, Michael, Oliveira, Jo

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 446 KB

english, 2016

47

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Sanders, Victoria R., Sheldon, Stephen H., Charrow, Joel

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 237 KB

english, 2018

48

Chart review of the management of late-onset Pompe patients diagnosed through newborn screening

Horgan, Sinead, Charrow, Joel, Jayaraman, Susheela, Hickey, Rachel, Hitchins, Lauren

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 328 KB

2020

49

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies

Leon G. Epstein, Ali Jalali, Ajit N. Chary, Sophia Khan, Joshua Ross, Justine Coppinger, Katrin Carlson, Joel Charrow, Barbara Burton, Donald Zimmerman, John Curran, Francine Kim, Pam Nguyen, Delilah

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2008

Language:

english

File:

PDF, 455 KB

english, 2008

50

Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B

Jennifer Schneiderman, Kimberly Thormann, Joel Charrow, Morris Kletzel

Journal:

Pediatric Blood & Cancer

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

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