المؤلفون: Areeg El-Gharbawy, Adviye A. Tolun, Carine A. Halaby, Stephanie L. Austin, Priya S. Kishnani, Deeksha S. Bali

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100856- (2022)

مصطلحات موضوعية: Biotinidase, Biomarker, Hepatic glycogen storage disease, GSD type I, GSD type III, Long-term disease monitoring, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000167; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3a95e36ba6154a538cffa158ff834108

المؤلفون: Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100821- (2021)

مصطلحات موضوعية: Glycogen storage disease type III (GSD III), Hypoglycemia, Cirrhosis, Left ventricular hypertrophy (LVH), Cardiomyopathy, and myopathy, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001166; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/4e0ccde04a5d4a4db4785200b06ae36a

المؤلفون: Aditi Korlimarla, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie L. Austin, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100635- (2020)

مصطلحات موضوعية: Children with Pompe disease, Behavior checklists, Screening for behavior problems, School functioning, Emotional functioning, Social functioning, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300811; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/30d152ef2c5041d5847da7f10a01c777

المؤلفون: Ozlem Goker-Alpan, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie L. Austin, Tabitha Jennelle, Maryam Banikazemi, Priya S. Kishnani

المصدر: Life, Vol 10, Iss 9, p 194 (2020)

مصطلحات موضوعية: lysosomal disorders, glycogen storage disease type II, pompe disease, LOPD, pregnancy, enzyme replacement therapy, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/10/9/194; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/83b6b06fe9174d0392b63545543a3ded

المؤلفون: Rachel D. Torok MD, Stephanie L. Austin MS, Lisa K. Britt RDCS, Jose E. Abdenur MD, Priya S. Kishnani MD, Stephanie B. Wechsler MD

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/8287655a6170433fb601987799afaa60

المؤلفون: Rebecca L. Koch, Claudia Soler-Alfonso, Bridget T. Kiely, Akihiro Asai, Ariana L. Smith, Deeksha S. Bali, Peter B. Kang, Andrew P. Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer L. Orthmann-Murphy, Deberah S. Goldman, Surekha Pendyal, Areeg H. El-Gharbawy, Stephanie L. Austin, Laura E. Case, Raphael Schiffmann, Michio Hirano, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism. 138:107525

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b336b0c258570ccc932e272583c3b197
https://doi.org/10.1016/j.ymgme.2023.107525

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

المصدر: Musclenerve. 51(5)

مصطلحات موضوعية: Adult, Male, Muscle Weakness, Adolescent, Glycogen Storage Disease Type II, Pilot Projects, Middle Aged, Magnetic Resonance Imaging, Sensitivity and Specificity, Severity of Illness Index, Case-Control Studies, Humans, Female, Whole Body Imaging, Muscle Strength, Muscle, Skeletal, Physical Examination, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3e47111c01958e679c4bbbab8cbf8040
https://pubmed.ncbi.nlm.nih.gov/25155446

المؤلفون: Stephanie L. Austin, Lisa Hobson-Webb, Sean N. Prater, Suhrad G. Banugaria, Raymond Wang, David S. Enterline, Donald P. Frush, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism. 117:S23

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3301318f677a64ff8b0f3097d7d07f4d
https://doi.org/10.1016/j.ymgme.2015.12.185