Alison Skrinar: search on Z-Library

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1

Clinical features of late-onset Pompe disease: A prospective cohort study

John H.J. Wokke, Diana M. Escolar, Alan Pestronk, Kenneth M. Jaffe, Gregory T. Carter, Leonard H. van den Berg, Julaine M. Florence, Jill Mayhew, Alison Skrinar, Deyanira Corzo, Pascal Laforet

Journal:

Year:

2008

Language:

english

File:

PDF, 170 KB

english, 2008

2

Burosumab Therapy in Children with X-Linked Hypophosphatemia

Carpenter, Thomas O., Whyte, Michael P., Imel, Erik A., Boot, Annemieke M., Högler, Wolfgang, Linglart, Agnès, Padidela, Raja, van’t Hoff, William, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, Kakkis,

Journal:

New England Journal of Medicine

Year:

2018

Language:

english

File:

PDF, 320 KB

english, 2018

3

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

Pogoryelova, Oksana, Cammish, Phillip, Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Skrinar, Alison, Chan, Yiumo, Nafissi, Shahriar, Shamshiri, Hosein, Kakkis, Emil, Lochmüller, Hanns

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 1.48 MB

english, 2017

4

Pompe disease and physical disability

Haley, Stephen M, Fragala, Maria A, Skrinar, Alison M

Journal:

Developmental Medicine & Child Neurology

Year:

2003

Language:

english

File:

PDF, 260 KB

english, 2003

5

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study

Argov, Zohar, Caraco, Yoseph, Lau, Heather, Pestronk, Alan, Shieh, Perry B., Skrinar, Alison, Koutsoukos, Tony, Ahmed, Ruhi, Martinisi, Julia, Kakkis, Emil

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 680 KB

english, 2016

6

Pompe disease and physical disability

Stephen M Haley, Maria A Fragala, Alison M Skrinar

Journal:

Developmental Medicine & Child Neurology

Year:

2003

Language:

english

File:

PDF, 241 KB

english, 2003

7

The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey

Skrinar, Alison, Dvorak-Ewell, Melita, Evins, Ayla, Macica, Carolyn, Linglart, Agnès, Imel, Erik A, Theodore-Oklota, Christina, San Martin, Javier

Journal:

Journal of the Endocrine Society

Year:

2019

File:

PDF, 412 KB

2019

8

The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey

Skrinar, Alison, Dvorak-Ewell, Melita, Evins, Ayla, Macica, Carolyn, Linglart, Agnès, Imel, Erik A, Theodore-Oklota, Christina, San Martin, Javier

Journal:

Journal of the Endocrine Society

Year:

2019

Language:

english

File:

PDF, 412 KB

english, 2019

9

A physical performance measure for individuals with mucopolysaccharidosis type I

Stephen M Haley, Maria A Fragala Pinkham, Helene M Dumas, Pengsheng Ni, Alison M Skrinar, Gerald F Cox

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 101 KB

english, 2006

10

Qualitative Research to Explore the Patient Experience of X-Linked Hypophosphatemia and Evaluate the Suitability of the BPI-SF and WOMAC® as Clinical Trial End Points

Theodore-Oklota, Christina, Bonner, Nicola, Spencer, Holly, Arbuckle, Rob, Chen, Chao-Yin, Skrinar, Alison

Journal:

Value in Health

Year:

2018

Language:

english

File:

PDF, 963 KB

english, 2018

11

Development of a disease-specific disability instrument for Pompe disease

Haley, Stephen M., Fragala, Maria A., Aseltine, Robert, Ni, Pengsheng, Skrinar, Alison M.

Journal:

Developmental Neurorehabilitation

Year:

2003

Language:

english

File:

PDF, 166 KB

english, 2003

12

Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score

Thacher, Tom D., Pettifor, John M., Tebben, Peter J., Creo, Ana L., Skrinar, Alison, Mao, Meng, Chen, Chao-Yin, Chang, Ting, San Martin, Javier, Carpenter, Thomas O.

Journal:

Year:

2019

Language:

english

File:

PDF, 389 KB

english, 2019

13

Pediatric physical functioning reference curves

Stephen M. Haley, Maria A. Fragala-Pinkham, Peng Sheng Ni, Alison M. Skrinar, Edward M. Kaye

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 540 KB

english, 2004

14

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots

Helmut Kallwass, Cortney Carr, Joseph Gerrein, Mariah Titlow, Robert Pomponio, Deeksha Bali, Jian Dai, Priya Kishnani, Alison Skrinar, Deyanira Corzo, Joan Keutzer

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 280 KB

english, 2007

15

Physical performance testing in mucopolysaccharidosis I: a pilot study

Dumas, Helene M., Fragala, Maria A., Haley, Stephen M., Skrinar, Alison M., Wraith, James E., Cox, Gerald F.

Journal:

Developmental Neurorehabilitation

Year:

2004

Language:

english

File:

PDF, 131 KB

english, 2004

16

Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale

Mayhew, Jill, Bonner, Nicola, Arbuckle, Rob, Turnbull, Alice, Bowden, Alexandra, Skrinar, Alison

Journal:

Journal of Comparative Effectiveness Research

Year:

2017

Language:

english

File:

PDF, 890 KB

english, 2017

17

Efficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial

Whyte, Michael P, Carpenter, Thomas O, Gottesman, Gary S, Mao, Meng, Skrinar, Alison, San Martin, Javier, Imel, Erik A

Journal:

The Lancet Diabetes & Endocrinology

Year:

2019

Language:

english

File:

PDF, 2.15 MB

english, 2019

18

Erratum to “Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots” [Mol. Genet. Metab. 90 (2007) 449–452]

Helmut Kallwass, Cortney Carr, Joseph Gerrein, Mariah Titlow, Robert Pomponio, Deeksha Bali, Jian Dai, Priya Kishnani, Alison Skrinar, Deyanira Corzo, Joan Keutzer

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

19

The Emerging Role of the Pediatric Physical Therapist in Evaluation and Intervention for Individuals with Lysosomal Storage Diseases

Haley, Stephen M., Fragala-Pinkham, Maria, Latham, Nancy K., Skrinar, Alison M., Cogswell, Deborah

Journal:

Pediatric Physical Therapy

Year:

2005

Language:

english

File:

PDF, 795 KB

english, 2005

20

A computer adaptive testing approach for assessing physical functioning in children and adolescents

Stephen M Haley, Pengsheng Ni, Maria A Fragala-Pinkham, Alison M Skrinar, Deyanira Corzo

Journal:

Developmental Medicine & Child Neurology

Year:

2005

Language:

english

File:

PDF, 203 KB

english, 2005

21

Growth Curves for Children with X-linked Hypophosphatemia

Mao, Meng, Carpenter, Thomas O, Whyte, Michael P, Skrinar, Alison, Chen, Chao-Yin, San Martin, Javier, Rogol, Alan D

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2020

File:

PDF, 977 KB

2020

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