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51

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

Année:

2020

Fichier:

PDF, 327 KB

2020

52

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

Année:

2020

Fichier:

PDF, 332 KB

2020

53

Dubowitz syndrome: A defect in the cholesterol biosynthetic pathway?

Ahmad, Ayesha, Amalfitano, Andrea, Chen, Yuan-Tsong, Kishnani, Priya Sunil, Miller, Cindy, Kelley, Richard

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 125 KB

english, 1999

54

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: Single causal entity?

Priya Kishnani, A. Kimberly Iafolla, Allyn McConkie-Rosell, Johan L. K. Van Hove, Ronald J. Kanter, Stephen G. Kahler

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 624 KB

english, 1995

55

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia

Dr. Johan L. K. Van Hove, Priya Kishnani, Joseph Muenzer, Richard J. Wenstrup, Marshall L. Summar, Michael R. Brummond, Ave M. Lachiewicz, David S. Millington, Stephen G. Kahler

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1995

56

Hypothyroidism in Down syndrome: Screening guidelines and testing methodology

Olga Hardy, Gordon Worley, Mary M. Lee, Shu Chaing, Joanne Mackey, Blythe Crissman, Priya Sunil Kishnani

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 34 KB

english, 2004

57

New onset focal weakness in children with Down syndrome

Gordon Worley, Rolla Shbarou, Amy N. Heffner, Karin M. Belsito, George T. Capone, Priya S. Kishnani

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 59 KB

english, 2004

58

Triploid mosaicism in a 45,X/69,XXY infant

Denise I. Quigley, Marie T. McDonald, Vidya Krishnamuthy, Priya S. Kishnani, Mary M. Lee, Andrea M. Haqq, Barbara K. Goodman

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 97 KB

english, 2005

59

Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: A clinical report series

Gail A. Spiridigliozzi, James H. Heller, Blythe G. Crissman, Jennifer A. Sullivan-Saarela, Rebecca Eells, Deborah Dawson, Jennifer Li, Priya S. Kishnani

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 88 KB

english, 2007

60

Sibling phenotype concordance in classical infantile Pompe disease

Wendy E. Smith, Jennifer A. Sullivan-Saarela, Jennifer S. Li, Gerald F. Cox, Deyanira Corzo, Yuan-Tsong Chen, Priya S. Kishnani

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 121 KB

english, 2007

61

The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome

Priya S. Kishnani, Barbara R. Sommer, Benjamin L. Handen, Benjamin Seltzer, George T. Capone, Gail A. Spiridigliozzi, James H. Heller, Sharon Richardson, Thomas McRae

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 177 KB

english, 2009

62

Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10–17

Priya S. Kishnani, James H. Heller, Gail A. Spiridigliozzi, Ira Lott, Luis Escobar, Sharon Richardson, Richard Zhang, Thomas McRae

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 194 KB

english, 2010

63

Current perspectives on Down syndrome: Selected medical and social issues

Blythe G. Crissman, Gordon Worley, Nancy Roizen, Priya S. Kishnani

Journal:

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

Année:

2006

Langue:

english

Fichier:

PDF, 85 KB

english, 2006

64

Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome

Natalia Dixon, Priya S. Kishnani, Sherri Zimmerman

Journal:

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

Année:

2006

Langue:

english

Fichier:

PDF, 137 KB

english, 2006

65

Clinical trials in children with Down syndrome: Issues from a cognitive research perspective

James H. Heller, Gail A. Spiridigliozzi, Blythe G. Crissman, Jennifer A. Sullivan-Saarela, Jennifer S. Li, Priya S. Kishnani

Journal:

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

Année:

2006

Langue:

english

Fichier:

PDF, 128 KB

english, 2006

66

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

Sarah P. Young, Monique Piraud, Jennifer L. Goldstein, Haoyue Zhang, Catherine Rehder, Pascal Laforet, Priya S. Kishnani, David S. Millington, Mustafa R. Bashir, Deeksha S. Bali

Journal:

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

Année:

2012

Langue:

english

Fichier:

PDF, 148 KB

english, 2012

67

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience

Deeksha S. Bali, Jennifer L. Goldstein, Suhrad Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder, Priya S. Kishnani

Journal:

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

Année:

2012

Langue:

english

Fichier:

PDF, 164 KB

english, 2012

68

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

Gail A. Spiridigliozzi, James H. Heller, Priya S. Kishnani

Journal:

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

Année:

2012

Langue:

english

Fichier:

PDF, 100 KB

english, 2012

69

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

Priya S. Kishnani, Alexandra A. Beckemeyer, Nancy J. Mendelsohn

Journal:

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

Année:

2012

Langue:

english

Fichier:

PDF, 276 KB

english, 2012

70

Targeting the MraY and MurG bacterial enzymes for antimicrobial therapeutic intervention

Laura E Zawadzke, Ping Wu, Lynda Cook, Li Fan, Margaret Casperson, Mona Kishnani, Deepa Calambur, Sandra J Hofstead, Ramesh Padmanabha

Journal:

Analytical Biochemistry

Année:

2003

Langue:

english

Fichier:

PDF, 438 KB

english, 2003

71

MRI assessment of left ventricular structure and function in children with infantile Pompe disease

Piers Barker, Michael J Campbell, Darty Stephen, Jennifer Li, Raymond Kim, Sara Pasquali, Stephanie DeArmey, Priya Kishnani

Journal:

Journal of Cardiovascular Magnetic Resonance

Année:

2010

Langue:

english

Fichier:

PDF, 105 KB

english, 2010

72

Development of a disease severity scoring system for patients with Pompe disease

E Giannini, K Berger, van der A Ploeg, L Case, C Dandrea, P Kishnani, D Marsden

Journal:

Pediatric Rheumatology

Année:

2008

Langue:

english

Fichier:

PDF, 64 KB

english, 2008

73

The Pompe Registry: tracking Pompe disease symptoms in a broad patient population

B Byrne, PS Kishnani, L Case, L Merlini, W Müeller-Felber, Vander A Ploeg, D Marsden, S Prasad

Journal:

Pediatric Rheumatology

Année:

2008

Langue:

english

Fichier:

PDF, 70 KB

english, 2008

74

Hydration and tissue solid content of the lean body on prolonged exposure to altitude

H. Bharadwaj, M. V. Singh, S. B. Rawal, T. Zachariah, S. Kishnani, S. N. Pramanik, A. Gupta, R. M. Rai

Journal:

International Journal of Biometeorology

Année:

1989

Langue:

english

Fichier:

PDF, 497 KB

english, 1989

75

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

A. McConkie-Rosell, C. Wilson, D. A. Piccoli, J. Boyle, T. De Clue, P. Kishnani, J.-J. Shen, A. Boney, B. Brown, Y. T. Chen

Journal:

Journal of Inherited Metabolic Disease

Année:

1996

Langue:

english

Fichier:

PDF, 662 KB

english, 1996

76

Pulmonary hypertension in glycogen storage disease type I

P. Kishnani, A. R. Bengur, Y. T. Chen

Journal:

Journal of Inherited Metabolic Disease

Année:

1996

Langue:

english

Fichier:

PDF, 329 KB

english, 1996

77

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu[UUR] gene

P. S. Kishnani, J. L. K. Van Hove, J. S. Shoffner, A. Kaufman, E. H. Bossen, S. G. Kahler

Journal:

European Journal of Pediatrics

Année:

1996

Langue:

english

Fichier:

PDF, 741 KB

english, 1996

78

Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe Disease

Jami C. Levine, Priya S. Kishnani, Y. T. Chen, J. Rene Herlong, Jennifer S. Li

Journal:

Pediatric Cardiology

Année:

2008

Langue:

english

Fichier:

PDF, 308 KB

english, 2008

79

Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease

Harrison N. Jones, Carolyn W. Muller, Min Lin, Suhrad G. Banugaria, Laura E. Case, Jennifer S. Li, Gwendolyn O’Grady, James H. Heller, Priya S. Kishnani

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 231 KB

english, 2010

80

Idiopathic Hyperammonemia following an Unrelated Cord Blood Transplant for Mucopolysaccharidosis I

Matthew J. Snyder, William D. Bradford, Priya S. Kishnani, Laura P. Hale

Journal:

Pediatric and Developmental Pathology

Année:

2003

Langue:

english

Fichier:

PDF, 291 KB

english, 2003

81

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

J. L. K. Van Hove, K. Vande Kerckhove, J. B. Hennermann, V. Mahieu, P. Declercq, S. Mertens, M. De Becker, P. S. Kishnani, J. Jaeken

Journal:

Journal of Inherited Metabolic Disease

Année:

2005

Langue:

english

Fichier:

PDF, 873 KB

english, 2005

82

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

L. M. Franco, V. Krishnamurthy, D. Bali, D. A. Weinstein, P. Arn, B. Clary, A. Boney, J. Sullivan, D. P. Frush, Y.-T. Chen, P. S. Kishnani

Journal:

Journal of Inherited Metabolic Disease

Année:

2005

Langue:

english

Fichier:

PDF, 110 KB

english, 2005

83

Glycogen storage disease types I and II: Treatment updates

D. D. Koeberl, P. S. Kishnani, Y. T. Chen

Journal:

Journal of Inherited Metabolic Disease

Année:

2007

Langue:

english

Fichier:

PDF, 256 KB

english, 2007

84

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency

V. Krishnamurthy, K. Eschrich, A. Boney, J. Sullivan, M. McDonald, P. S. Kishnani, D. D. Koeberl

Journal:

Journal of Inherited Metabolic Disease

Année:

2007

Langue:

english

Fichier:

PDF, 171 KB

english, 2007

85

Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India

A. Nagral, P. Mewawalla, S. Jagadeesh, M. Kabra, S. R. Phadke, I. C. Verma, R. D. Puri, N. Gupta, P. S. Kishnani, P. K. Mistry

Journal:

Indian Pediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 477 KB

english, 2011

86

On the solution of elliptic free-boundary problems via Newton's method

Ronaldo I. Borja, Sunil S. Kishnani

Journal:

Computer Methods in Applied Mechanics and Engineering

Année:

1991

Langue:

english

Fichier:

PDF, 1.46 MB

english, 1991

87

High-performance liquid chromatographic method for the quantification of unbound evernimicin in human plasma ultrafiltrate

Ruyun Zhong, Abraham Hernandez, Kevin B. Alton, Narendra S. Kishnani, James E. Patrick

Journal:

Journal of Chromatography B

Année:

2002

Langue:

english

Fichier:

PDF, 97 KB

english, 2002

88

Anaesthetic management of infants with glycogen storage disease type II: a physiological approach

Richard J. Ing, D. Ryan Cook, Resai A. Bengur, Eric A. Williams, John Eck, Guy de L. Dear, Allison K. Ross, Frank H. Kern, Priya S. Kishnani

Journal:

Pediatric Anesthesia

Année:

2004

Langue:

english

Fichier:

PDF, 70 KB

english, 2004

89

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series

LUKE Y.-J. WANG, ALLISON K. ROSS, JENNIFER S. LI, STEPHANIE M. DEARMEY, JOANNE F. MACKEY, MARYALICE WORDEN, DEYANIRA CORZO, CLAIRE MORGAN, PRIYA S. KISHNANI

Journal:

Pediatric Anesthesia

Année:

2007

Langue:

english

Fichier:

PDF, 482 KB

english, 2007

90

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

Année:

2006

Langue:

english

Fichier:

PDF, 885 KB

english, 2006

91

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors

Beaty, R M, Jackson, M, Peterson, D, Bird, A, Brown, T, Benjamin, D K, Juopperi, T, Kishnani, P, Boney, A, Chen, Y T

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 472 KB

english, 2002

92

Nutritional deficiencies in a patient with glycogen storage disease type Ib

P. S. Kishnani, A. Boney, Y.-T. Chen

Journal:

Journal of Inherited Metabolic Disease

Année:

1999

Langue:

english

Fichier:

PDF, 61 KB

english, 1999

93

Toxicity and exposure of an adenovirus containing human interferon alpha-2b following intracystic administration in cynomolgus monkeys

Veneziale, R W, Kishnani, N S, Nelson, J, Resendez, J C, Frank, D W, Cai, X-Y, Xie, L, Cullen, C, Frugone, C A, Rosenfeld, C, Hubbell, J, Maxwell, S E, Sugarman, B J, Hutchins, B, Maneval, D, Treinen,

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 482 KB

english, 2012

94

Isolation and Nucleotide Sequence of Canine Glucose-6-phosphatase mRNA: Identification of Mutation in Puppies with Glycogen Storage Disease Type Ia

Priya S. Kishnani, Yong Bao, Jer-Yuarn Wu, Amy E. Brix, Ju-Li Lin, Yuan-Tsong Chen

Journal:

Biochemical and Molecular Medicine

Année:

1997

Langue:

english

Fichier:

PDF, 924 KB

english, 1997

95

Estimation of body density and lean body weight from body measurements at high altitude

Hari Bharadwaj, S. S. Verma, T. Zachariah, M. R. Bhatia, S. Kishnani, M. S. Malhotra

Journal:

European Journal of Applied Physiology

Année:

1977

Langue:

english

Fichier:

PDF, 518 KB

english, 1977

96

Prediction of body volume by a stepwise linear regression technique

S. S. Verma, H. Bharadwaj, T. Zachariah, S. Kishnani, M. R. Bhatia

Journal:

European Journal of Applied Physiology

Année:

1983

Langue:

english

Fichier:

PDF, 420 KB

english, 1983

97

Variations in skinfold thickness during de-acclimatisation and re-acclimatisation to high altitude

T. Zachariah, S. B. Rawal, S. N. Pramanik, M. V. Singh, S. Kishnani, H. Bharadwaj, R. M. Rai

Journal:

European Journal of Applied Physiology

Année:

1987

Langue:

english

Fichier:

PDF, 527 KB

english, 1987

98

The Pompe Registry: Baseline Data From the First Five Years

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

Journal:

Clinical Therapeutics

Année:

2011

Langue:

english

Fichier:

PDF, 78 KB

english, 2011

99

Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza

Hanna Mandel, Deeksha Bali, Priya S. Kishnani, Gad Bar-Joseph, Avraham Lorber, Asaad Khoury, Dalia Natan, Dan J. Eldad, Marsha Zeigler, Dan Bercovich, Horachio Plotkin, Eli Herskovitz

Journal:

Clinical Therapeutics

Année:

2011

Langue:

english

Fichier:

PDF, 84 KB

english, 2011

100

The Heterogeneity of Pompe Disease: Early Data on Genotype From the Pompe Registry

Priya Kishnani, Barry Byrne, Laura Case, Edward Cupler, Angela Genge, Ans van der Ploeg, Suyash Prasad

Journal:

Clinical Therapeutics

Année:

2011

Langue:

english

Fichier:

PDF, 98 KB

english, 2011