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1

Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: Case report and review of the literature

Claudio Sandoval, Sharon R. Pine, Qianxu Guo, Sudha Sastry, Julian Stewart, David Kronn, Somasundaram Jayabose

Journal:

Pediatric Blood & Cancer

Year:

2005

Language:

english

File:

PDF, 195 KB

english, 2005

2

Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

Georgianne L. Arnold, Carlos A. Saavedra-Matiz, Patricia A. Galvin-Parton, Richard Erbe, Ellen DeVincentis, David Kronn, Shideh Mofidi, Melissa Wasserstein, Joan E. Pellegrino, Paul A. Levy, Darius J.

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 164 KB

english, 2010

3

Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis

Lee B. Jacoby, Deborah Jones, Kevin Davis, David Kronn, M. Priscilla Short, James Gusella, Mia MacCollin

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 629 KB

english, 1997

4

Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents

Roger V. Lebo, Lawrence R. Shapiro, Elif Yosunkaya Fenerci, J.M. Hoover, Jacinta L. Chuang, David T. Chuang, David F. Kronn

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 346 KB

english, 2000

5

Urea Cycle Disorders in the Pubertal Female and the Role of Hormone Therapy

Childress, Krista, Robart, Sarah, Mofidi, Shideh, Regard, Monique, Kronn, David, Mariel Focseneanu,

Journal:

Journal of Pediatric and Adolescent Gynecology

Year:

2014

Language:

english

File:

PDF, 362 KB

english, 2014

6

Carrier Screening for Cystic Fibrosis, Gaucher Disease, and Tay-Sachs Disease in the Ashkenazi Jewish Population

Kronn, David, Jansen, Valerie, Ostrer, Harry

Journal:

Archives of Internal Medicine

Year:

1998

Language:

english

File:

PDF, 155 KB

english, 1998

7

Defects in long chain fatty acid oxidation presenting as severe cardiomyopathy and cardiogenic shock in infancy

Dereddy, Narendra R., Kronn, David, Krishnan, Usha

Journal:

Cardiology in the Young

Year:

2009

Language:

english

File:

PDF, 47 KB

english, 2009

8

Cytochrome c Oxidase Deficiency Due to a Novel SCO2 Mutation Mimics Werdnig-Hoffmann Disease

Salviati, Leonardo, Sacconi, Sabrina, Rasalan, Minerva M., Kronn, David F., Braun, Alex, Canoll, Peter, Davidson, Mercy, Shanske, Sara, Bonilla, Eduardo, Hays, Arthur P., Schon, Eric A., DiMauro, Salv

Journal:

Archives of Neurology

Year:

2002

Language:

english

File:

PDF, 206 KB

english, 2002

9

Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe disease

Kishnani, Priya S., Day, John W., Gambello, Michael, Gibson, James B., Hillman, Richard, Kronn, David, Leslie, Nancy, Pena, Loren, Stockton, David W., Tanpaiboon, Pranoot, Wang, Raymond, Haack, Kristi

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

10

Hereditary Folate Malabsorption

GELLER, JAMES, KRONN, DAVID, JAYABOSE, SOMASUNDARAM, SANDOVAL, CLAUDIO

Journal:

Medicine (Williams & Wilkins)

Year:

2002

Language:

english

File:

PDF, 177 KB

english, 2002

11

Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

Ensenauer, Regina, Winters, Jennifer L, Parton, Patricia A, Kronn, David F, Kim, Jong-Won, Matern, Dietrich, Rinaldo, Piero, Hahn, Si Houn

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 664 KB

english, 2005

12

52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective study

Hahn, Sihoun, Pena, Loren, Day, John W., Gambello, Michael, Gibson, James B., Hillman, Richard, Kronn, David, Stockton, David, Leslie, Nancy, Tanpaiboon, Pranoot, Wang, Raymond, Haack, Kristina An, Sp

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 54 KB

english, 2016

13

Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategy

Kazi, Zoheb B., Desai, Ankit K., Erwin, Angelika, Makris, Chris, Troxler, Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Nuoffer, Jean-Marc, Weisfeld-Adams, James, Rizzo, William, Maxit, C

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 72 KB

english, 2016

14

Emergency Management of Inherited Metabolic Disorders

Mofidi, Shideh, Kronn, David

Journal:

Topics in Clinical Nutrition

Year:

2009

Language:

english

File:

PDF, 102 KB

english, 2009

15

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

Kronn, David F., Day-Salvatore, Debra, Hwu, Wuh-Liang, Jones, Simon A., Nakamura, Kimitoshi, Okuyama, Torayuki, Swoboda, Kathryn J., Kishnani, Priya S.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.48 MB

english, 2017

16

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Burton, Barbara K., Kronn, David F., Hwu, Wuh-Liang, Kishnani, Priya S.

Journal:

Year:

2017

Language:

english

File:

PDF, 926 KB

english, 2017

17

Diagnostic guidelines for newborns who screen positive in newborn screening

Kronn, David, Mofidi, Shideh, Braverman, Nancy, Harris, Katharine

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 158 KB

english, 2010

18

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Hahn, Si Houn, Kronn, David, Leslie, Nancy D, Pena, Loren D M, Tanpaiboon, Pranoot, Gambello, Michael J, Gibson, James B, Hillman, Richard, Stockton, David W, Day, John W, Wang, Raymond Y, An Haack, K

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 334 KB

english, 2018

19

Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.

Kong, Yu, Berko, Esther R., Marckette, Anthony, Maqbool, Shahina B., Simões-Pires, Claudia A., Kronn, David F., Ye, Qian K., Suzuki, Masako, Auton, Adam, Greally, John

Journal:

Genome Research

Year:

2018

Language:

english

File:

PDF, 6.48 MB

english, 2018

20

Response to omalizumab in a patient with Pompe disease

Kronn, David, Stein, Valerie Marrero, Siegel, Subhadra

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

21

An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease

Desai, Ankit K., Kazi, Zoheb B., Erwin, Angelika, Troxler, Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Nuoffer, Jean-Marc, Weisfield-Adams, James, Rizzo, William, Maxit, Clarisa, Rohrba

Journal:

Molecular Genetics and Metabolism

Year:

2018

File:

PDF, 57 KB

2018

22

An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease

Desai, Ankit K., Kazi, Zoheb B., Erwin, Angelika, Troxler, Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Nuoffer, Jean-Marc, Weisfield-Adams, James, Rizzo, William, Maxit, Clarisa, Rohrba

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 57 KB

english, 2018

23

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheel

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 549 KB

english, 2018

24

Navigating Newborn Screening in the NICU: A User’s Guide

Journal:

Year:

2019

Language:

english

File:

PDF, 1.38 MB

english, 2019

25

Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series

Canter, Jennifer, Rao, Vinod, Palusci, Vincent, Kronn, David, Manaster, Michal, Altman, Robin

Journal:

Journal of Pediatric Genetics

Year:

2019

Language:

english

File:

PDF, 110 KB

english, 2019

26

Navigating Newborn Screening in the NICU: A User’s Guide

Journal:

Year:

2019

File:

PDF, 1.38 MB

2019

27

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y.

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 469 KB

english, 2019

28

Diagnostic challenges for Pompe disease newborn screening in a pre-term infant

Valerie Marrero-Stein, M., Kronn, David

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

29

Diagnostic challenges for Pompe disease newborn screening in a pre-term infant

Valerie Marrero-Stein, M., Kronn, David

Journal:

Molecular Genetics and Metabolism

Year:

2018

File:

PDF, 49 KB

2018

30

Mini-COMET study: Safety, immunogenicity, and preliminary efficacy for repeat avalglucosidase alfa dosing in patients with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa and demonstrated clinical decline

Kronn, David, Brassier, AnaÃ¯s, Broomfield, Alexander, Davison, James, Hahn, Sihoun, Kishnani, Priya S., Kumada, Satoko, Labarthe, FranÃ§ois, Ohki, Hirotaka, Pichard, Samia, Haack, Kristina An, Fleuri

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 331 KB

2020

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