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1

Ecology and the Asian Metropolis: A Case For Renewal and Repair

Kishnani, Nirmal

Journal:

Museum International

Year:

2019

Language:

english

File:

PDF, 38.28 MB

english, 2019

2

The influence of building form variables on the environmental performance of semi-outdoor spaces. A study in mid-rise and high-rise buildings of Singapore

Gamero-Salinas, Juan, Kishnani, Nirmal, Monge-Barrio, Aurora, LÃ³pez-Fidalgo, JesÃºs, SÃ¡nchez-Ostiz, Ana

Journal:

Energy and Buildings

Year:

2021

File:

PDF, 4.56 MB

2021

3

Seepage and Soil‐Structure Interaction Effects in Braced Excavations

Kishnani, Sunil S., Borja, Ronaldo I.

Journal:

Journal of Geotechnical Engineering

Year:

1993

Language:

english

File:

PDF, 989 KB

english, 1993

4

Immunotherapy in selected patients with Down syndrome disintegrative disorder

Cardinale, Kathleen M, Bocharnikov, Alexandra, Hart, Sarah J, Baker, Jane Ann, Eckstein, Christopher, Jasien, Joan M, Gallentine, William, Worley, Gordon, Kishnani, Priya S, Van Mater, Heather

Journal:

Developmental Medicine & Child Neurology

Year:

2018

Language:

english

File:

PDF, 103 KB

english, 2018

5

Gaucher disease and SARS-CoV-2 infection: Emerging management challenges

Mistry, Pramod, Balwani, Manisha, Barbouth, Deborah, Burrow, T. Andrew, Ginns, Edward I., Goker-Alpan, Ozlem, Grabowski, Gregory A., Kartha, Reena V., Kishnani, Priya S., Lau, Heather, Lee, Chung U.,

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 681 KB

2020

6

Prenatal diagnosis of Down syndrome: How best to deliver the news

Brian G. Skotko, Priya S. Kishnani, George T. Capone, for the Down Syndrome Diagnosis Study Group

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 105 KB

english, 2009

7

Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation

Alberto Dubrovsky, Jose Corderi, Min Lin, Priya S. Kishnani, Harrison N. Jones

Journal:

Year:

2011

Language:

english

File:

PDF, 251 KB

english, 2011

8

How common is misdiagnosis in late-onset pompe disease?

Lisa D. Hobson-Webb, Priya S. Kishnani

Journal:

Year:

2012

Language:

english

File:

PDF, 251 KB

english, 2012

9

Fracture burden in children and adults with hypophosphatasia

M. Whyte⁎, C.R. Greenberg, P. Kishnani, A. Mhanni, J. Mayhew, L. Case, C. Siener, V. Lim, N. Kreher, A. Skrinar

Journal:

Year:

2012

Language:

english

File:

PDF, 242 KB

english, 2012

10

Glycogen Storage Disease Type III diagnosis and management guidelines

Kishnani, Priya S, Austin, Stephanie L, Arn, Pamela, Bali, Deeksha S, Boney, Anne, Case, Laura E, Chung, Wendy K, Desai, Dev M, El-Gharbawy, Areeg, Haller, Ronald, Smit, G Peter A, Smith, Alastair D,

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 651 KB

english, 2010

11

Timing of diagnosis of patients with pompe disease: Data from the pompe registry

Kishnani, Priya S., Amartino, Hernán M., Lindberg, Christopher, Miller, Timothy M., Wilson, Amanda, Keutzer, Joan

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 572 KB

english, 2013

12

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

Kishnani, Priya S., Amartino, Hernán M., Lindberg, Christopher, Miller, Timothy M., Wilson, Amanda, Keutzer, Joan

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 618 KB

english, 2014

13

Premature Pubarche in Children with Pompe Disease

Tan, Queenie K.-G., Stockton, David W., Pivnick, Eniko, Choudhri, Asim F., Hines-Dowell, Stacy, Pena, Loren D.M., Deimling, Melissa A., Freemark, Michael S., Kishnani, Priya S.

Journal:

The Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 529 KB

english, 2015

14

Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome

Worley, G., Crissman, B. G., Cadogan, E., Milleson, C., Adkins, D. W., Kishnani, P. S.

Journal:

Journal of Child Neurology

Year:

2015

Language:

english

File:

PDF, 131 KB

english, 2015

15

Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in pompe disease

Horvath, Jeffrey J., Austin, Stephanie L., Case, Laura E., Greene, Karla B., Jones, Harrison N., Soher, Brian J., Kishnani, Priya S., Bashir, Mustafa R.

Journal:

Year:

2015

Language:

english

File:

PDF, 514 KB

english, 2015

16

Donepezil for the treatment of language deficits in adults with Down syndrome: A preliminary 24-week open trial

James H. Heller, Gail A. Spiridigliozzi, Jennifer A. Sullivan, P. Murali Doraiswamy, Ranga R. Krishnan, Priya S. Kishnani

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 73 KB

english, 2003

17

Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations

Laura E. Case, Alexandra A. Beckemeyer, Priya S. Kishnani

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 393 KB

english, 2012

18

Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory

Jennifer L. Goldstein, Sarah P. Young, Mohita Changela, Gwen H. Dickerson, Haoyue Zhang, Jian Dai, Denise Peterson, David S. Millington, Priya S. Kishnani, Deeksha S. Bali

Journal:

Year:

2009

Language:

english

File:

PDF, 119 KB

english, 2009

19

Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity

Deeksha S. Bali, Adviye A. Tolun, Jennifer L. Goldstein, Jian Dai, Priya S. Kishnani

Journal:

Year:

2011

Language:

english

File:

PDF, 153 KB

english, 2011

20

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Erin Demo, Donald Frush, Marcia Gottfried, John Koepke, Anne Boney, Deeksha Bali, Y.T. Chen, Priya S. Kishnani

Journal:

Journal of Hepatology

Year:

2007

Language:

english

File:

PDF, 2.76 MB

english, 2007

21

G.P.16.01. The Pompe registry: Tracking Pompe disease symptoms in a broad patient population

B. Byrne, P.S. Kishnani, L. Case, L. Merlini, W. Müeller-Felber, A. Van der Ploeg

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 48 KB

english, 2008

22

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

B. Winchester, D. Bali, O.A. Bodamer, C. Caillaud, E. Christensen, A. Cooper, E. Cupler, M. Deschauer, K. Fumić, M. Jackson, P. Kishnani, L. Lacerda, J. Ledvinová, A. Lugowska, Z. Lukacs, I. Maire, H.

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 141 KB

english, 2008

23

The clinical phenotype of Long-term infantile Pompe disease survivors

Sean Prater, Suhrad Banugaria, Joanne Mackey, Michelle Canfield, Laura Case, Stephanie DeArmey, Priya Kishnani

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 71 KB

english, 2011

24

Pompe disease: Design, methodology, and early findings from the Pompe Registry

Barry J. Byrne, Priya S. Kishnani, Laura E. Case, Luciano Merlini, Wolfgang Müller-Felber, Suyash Prasad, Ans van der Ploeg

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 479 KB

english, 2011

25

The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry

Mark Roberts, Priya S. Kishnani, Ans T. van der Ploeg, Wolfgang Müller-Felber, Luciano Merlini, Suyash Prasad, Laura E. Case

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 445 KB

english, 2011

26

Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease

Stephanie Austin, Priya Kishnani

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 70 KB

english, 2013

27

Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

Smith, Wendy, Kishnani, Priya S., Lee, Brendan, Singh, Rani H., Rhead, William J., Sniderman King, Lisa, Smith, Michael, Summar, Marshall

Journal:

Critical Care Clinics

Year:

2005

Language:

english

File:

PDF, 287 KB

english, 2005

28

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

29

Quantitative Analysis of Polyethylene Glycol (PEG) and PEGylated Proteins in Animal Tissues by LC-MS/MS Coupled with In-Source CID

Gong, Jiachang, Gu, Xiaomei, Achanzar, William E., Chadwick, Kristina D., Gan, Jinping, Brock, Barry J., Kishnani, Narendra S., Humphreys, W. Griff, Iyer, Ramaswamy A.

Journal:

Analytical Chemistry

Year:

2014

Language:

english

File:

PDF, 847 KB

english, 2014

30

Blood-based diagnostic testing for Pompe disease: Consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results

Goldstein, Jennifer L., Dickerson, Gwen, Kishnani, Priya S., Rehder, Catherine, Bali, Deeksha S.

Journal:

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

31

Basilar artery aneurysm: A new finding in classic infantile pompe disease

Patel, Trusha T., Banugaria, Suhrad G., Frush, Donald P., Enterline, David S., Tanpaiboon, Pranoot, Kishnani, Priya S.

Journal:

Year:

2013

Language:

english

File:

PDF, 291 KB

english, 2013

32

Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disorders

Javan, Ramin, Horvath, Jeffrey J., Case, Laura E., Austin, Stephanie, Corderi, Jose, Dubrovsky, Alberto, Kishnani, Priya S., Bashir, Mustafa R.

Journal:

Year:

2013

Language:

english

File:

PDF, 476 KB

english, 2013

33

Assessment of awareness of Green Mark (GM) rating tool by occupants of GM buildings and general public

Bozovic-Stamenovic, R., Kishnani, N., Tan, B.K., Prasad, D., Faizal, F.

Journal:

Energy and Buildings

Year:

2015

Language:

english

File:

PDF, 2.16 MB

english, 2015

34

Quantitative assessment of lingual strength in late-onset Pompe disease

Jones, Harrison N., Crisp, Kelly D., Asrani, Priyanka, Sloane, Richard, Kishnani, Priya S.

Journal:

Year:

2015

Language:

english

File:

PDF, 68 KB

english, 2015

35

Physical therapy management of infants and children with hypophosphatasia

Phillips, Dawn, Case, Laura E., Griffin, Donna, Hamilton, Kim, Lara, Sergio Lerma, Leiro, Beth, Monfreda, Jessica, Westlake, Elaine, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 286 KB

english, 2016

36

Detecting celiac disease in patients with Down syndrome

Sharr, Christianne, Lavigne, Jenifer, Elsharkawi, Ibrahim M. A., Ozonoff, Al, Baumer, Nicole, Brasington, Campbell, Cannon, Sheila, Crissman, Blythe, Davidson, Emily, Florez, Jose C., Kishnani, Priya,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 100 KB

english, 2016

37

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

38

Building Integrated Agriculture: Utilising Rooftops for Sustainable Food Crop Cultivation in Singapore

Astee, Lim Yinghui, Kishnani, Nirmal T

Journal:

Journal of Green Building

Year:

2010

Language:

english

File:

PDF, 1.24 MB

english, 2010

39

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

40

Clinical Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy Type I

Krosschell, Kristin J., Kissel, John T., Townsend, Elise L., Simeone, Sarah D., Zhang, Ren Zhe, Reyna, Sandra P., Thomas, O. Crawford, Schroth, Mary K., Acsadi, Gyula, Kishnani, Priya S., von Kleist-R

Journal:

Year:

2017

Language:

english

File:

PDF, 990 KB

english, 2017

41

Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study

Rofail, Diana, Froggatt, Daniel, de la Torre, Rafael, Edgin, Jamie, Kishnani, Priya, Touraine, Renaud, Whitwham, Sarah, Squassante, Lisa, Khwaja, Omar, D’Ardhuy, Xavier Liogier

Journal:

Advances in Therapy

Year:

2017

Language:

english

File:

PDF, 876 KB

english, 2017

42

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

Puri, Ratna Dua, Kapoor, Seema, Kishnani, Priya S., Dalal, Ashwin, Gupta, Neerja, Muranjan, Mamta, Phadke, Shubha R., Sachdeva, Anupam, Verma, Ishwar C., Mistry, Pramod K.

Journal:

Indian Pediatrics

Year:

2018

Language:

english

File:

PDF, 529 KB

english, 2018

43

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Kishnani, Priya S., Goldstein, Jennifer, Austin, Stephanie L., Arn, Pamela, Bachrach, Bert, Bali, Deeksha S., Chung, Wendy K., El-Gharbawy, Areeg, Brown, Laurie M., Kahler, Stephen, Pendyal, Surekha,

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 749 KB

english, 2019

44

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

Högler, Wolfgang, Langman, Craig, Gomes da Silva, Hugo, Fang, Shona, Linglart, Agnès, Ozono, Keiichi, Petryk, Anna, Rockman-Greenberg, Cheryl, Seefried, Lothar, Kishnani, Priya S.

Journal:

BMC Musculoskeletal Disorders

Year:

2019

Language:

english

File:

PDF, 580 KB

english, 2019

45

Whole-brain irradiation and decline in intelligence: the influence of dose and age on IQ score.

Silber, J H, Radcliffe, J, Peckham, V, Perilongo, G, Kishnani, P, Fridman, M, Goldwein, J W, Meadows, A T

Journal:

Journal of Clinical Oncology

Year:

1992

File:

PDF, 649 KB

1992

46

Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

ElMallah, Mai K., Desai, Ankit K., Nading, Erica B., DeArmey, Stephanie, Kravitz, Richard M., Kishnani, Priya S.

Journal:

Pediatric Pulmonology

Year:

2020

File:

PDF, 836 KB

2020

47

Dietary lipids in glycogen storage disease type III: a systematic literature study, case studies and future recommendations

Rossi, Alessandro, Hoogeveen, Irene J., Bastek, Vanessa B., Boer, Foekje, Montanari, Chiara, Meyer, Uta, Maiorana, Arianna, Bordugo, Andrea, Dianin, Alice, Campana, Carmen, Rigoldi, Miriam, Kishnani,

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 2.97 MB

2020

48

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease

Khan, Aleena A., Case, Laura E., Herbert, Mrudu, DeArmey, Stephanie, Jones, Harrison, Crisp, Kelly, Zimmerman, Kanecia, ElMallah, Mai K., Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 320 KB

2020

49

Development of high sustained IgG antibody titers and corresponding clinical decline in an adolescent with atypical infantile Pompe disease after 11+ years on enzyme replacement therapy with alglucosidase alfa

Kim, Katherine H., Vucko, Erika, Desai, Ankit K., Kishnani, Priya, Burton, Barbara K.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 327 KB

2020

50

A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease

Koeberl, Dwight, Smith, Edward C., Case, Laura E., Hopkins, Sam, Childers, Martin K., Walters, Crista, Han, Sang-oh, Spears, Tracy G., Hornik, Christoph P., Bali, Deeksha, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 332 KB

2020

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