P Kishnani : rechercher sur Z-Library

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1

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

Kishnani, Nirmal

Journal:

Museum International

Année:

2019

Langue:

english

Fichier:

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

Année:

2021

Fichier:

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

Année:

1993

Langue:

english

Fichier:

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

Année:

2018

Langue:

english

Fichier:

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

Année:

2020

Fichier:

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

Année:

2009

Langue:

english

Fichier:

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:

Année:

2011

Langue:

english

Fichier:

PDF, 251 KB

english, 2011

8

How common is misdiagnosis in late-onset pompe disease?

Lisa D. Hobson-Webb, Priya S. Kishnani

Journal:

Année:

2012

Langue:

english

Fichier:

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:

Année:

2012

Langue:

english

Fichier:

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

Année:

2010

Langue:

english

Fichier:

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

Année:

2013

Langue:

english

Fichier:

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

Année:

2014

Langue:

english

Fichier:

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

Année:

2015

Langue:

english

Fichier:

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

Année:

2015

Langue:

english

Fichier:

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:

Année:

2015

Langue:

english

Fichier:

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

Année:

2003

Langue:

english

Fichier:

PDF, 73 KB

english, 2003

17

Donepezil effects on language in children with Down syndrome: Results of the first 22-week pilot clinical trial

James H. Heller, Gail A. Spiridigliozzi, P. Murali Doraiswamy, Jennifer A. Sullivan, Bythe G. Crissman, Priya S. Kishnani

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 39 KB

english, 2004

18

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

Année:

2012

Langue:

english

Fichier:

PDF, 393 KB

english, 2012

19

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:

Année:

2009

Langue:

english

Fichier:

PDF, 119 KB

english, 2009

20

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:

Année:

2011

Langue:

english

Fichier:

PDF, 153 KB

english, 2011

21

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

Année:

2007

Langue:

english

Fichier:

PDF, 2.76 MB

english, 2007

22

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

Année:

2008

Langue:

english

Fichier:

PDF, 48 KB

english, 2008

23

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

Année:

2008

Langue:

english

Fichier:

PDF, 141 KB

english, 2008

24

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

Année:

2011

Langue:

english

Fichier:

PDF, 71 KB

english, 2011

25

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

Année:

2011

Langue:

english

Fichier:

PDF, 479 KB

english, 2011

26

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

Année:

2011

Langue:

english

Fichier:

PDF, 445 KB

english, 2011

27

Compiler Transformations to Enable Synchronous Execution in an RIA Runtime

Iyer, A., Chatterjee, A., Kishnani, J.

Journal:

IEEE Internet Computing

Année:

2010

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2010

28

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

Stephanie Austin, Priya Kishnani

Journal:

BMC Musculoskeletal Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 70 KB

english, 2013

29

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

Année:

2005

Langue:

english

Fichier:

PDF, 287 KB

english, 2005

30

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

Année:

2013

Langue:

english

Fichier:

PDF, 424 KB

english, 2013

31

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

Année:

2014

Langue:

english

Fichier:

PDF, 847 KB

english, 2014

32

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:

Année:

2014

Langue:

english

Fichier:

PDF, 65 KB

english, 2014

33

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:

Année:

2013

Langue:

english

Fichier:

PDF, 291 KB

english, 2013

34

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:

Année:

2013

Langue:

english

Fichier:

PDF, 476 KB

english, 2013

35

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

Année:

2015

Langue:

english

Fichier:

PDF, 2.16 MB

english, 2015

36

Quantitative assessment of lingual strength in late-onset Pompe disease

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

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 68 KB

english, 2015

37

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

Année:

2016

Langue:

english

Fichier:

PDF, 286 KB

english, 2016

38

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

Année:

2016

Langue:

english

Fichier:

PDF, 100 KB

english, 2016

39

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

Année:

2016

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2016

40

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

Astee, Lim Yinghui, Kishnani, Nirmal T

Journal:

Journal of Green Building

Année:

2010

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2010

41

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

Année:

2017

Langue:

english

Fichier:

PDF, 51 KB

english, 2017

42

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:

Année:

2017

Langue:

english

Fichier:

PDF, 990 KB

english, 2017

43

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

Année:

2017

Langue:

english

Fichier:

PDF, 876 KB

english, 2017

44

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

Année:

2018

Langue:

english

Fichier:

PDF, 529 KB

english, 2018

45

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

Année:

2019

Langue:

english

Fichier:

PDF, 749 KB

english, 2019

46

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

Année:

2019

Langue:

english

Fichier:

PDF, 580 KB

english, 2019

47

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

Année:

1992

Fichier:

PDF, 649 KB

1992

48

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

Année:

2020

Fichier:

PDF, 836 KB

2020

49

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

Année:

2020

Fichier:

PDF, 2.97 MB

2020

50

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

Année:

2020

Fichier:

PDF, 320 KB

2020