المؤلفون: Sarah P. Young, Aleena Khan, Ela Stefanescu, Andrea M. Seifts, Ghada Hijazi, Stephanie Austin, Priya S. Kishnani

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 37-43 (2021)

مصطلحات موضوعية: 24‐hour urine, biomarker, Glc4, glucose tetrasaccharide, glycogen storage disease type III, Hex4, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/94ce4660da474f41accd21572dc5d893

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: Ghada Hijazi, Nisha Pai, Laura L. Nagy, Sarah Herd, Jolynn Dickson, Maya Ram, Michal Inbar-Feigenberg

المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919301247; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/112d1a8b82a147dbb799f20ac2ab0e5f

المؤلفون: Aleena A. Khan, Priya S. Kishnani, Stephanie Austin, Sarah P. Young, Ghada Hijazi, Andrea M. Seifts, Ela Stefanescu

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 37-43 (2021)

مصطلحات موضوعية: lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Urinary system, Physiology, Reference range, Glc4, Glucose tetrasaccharide, Glycogen storage disease type III, 24‐hour urine, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Excretion, chemistry.chemical_compound, Hex4, Internal Medicine, Medicine, Glycogen storage disease, In patient, glucose tetrasaccharide, glycogen storage disease type III, Creatinine, lcsh:RC648-665, business.industry, medicine.disease, lcsh:Genetics, chemistry, biomarker, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3090d322f153f44de65ca19d2e147e7d
https://doi.org/10.1002/jmd2.12181

المؤلفون: Syed Faaiz Enam, Laura E. Case, Anna K. Paschall, Ghada Hijazi, Priya S. Kishnani, Aleena A. Khan, Michael Bowling, Stephanie Austin, Tracy Boggs

المصدر: Mol Genet Metab

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Weakness, Adolescent, Endocrinology, Diabetes and Metabolism, Electromyography, Biochemistry, Article, Manual Muscle Testing, Cohort Studies, Glycogen Storage Disease Type III, Young Adult, Endocrinology, Genetics, medicine, Humans, Whole Body Imaging, Functional ability, Child, Muscle, Skeletal, Molecular Biology, Wasting, Physical Therapy Modalities, Muscle Weakness, medicine.diagnostic_test, business.industry, Infant, Newborn, Muscle weakness, Infant, Magnetic resonance imaging, Middle Aged, Magnetic Resonance Imaging, Cross-Sectional Studies, Child, Preschool, Cohort, Physical therapy, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab48e8ad1c4adfe92e82ce1faadc3844
https://europepmc.org/articles/PMC8667569/

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

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

مصطلحات موضوعية: Medicine (General), LDL, Low density lipoproteins, Cirrhosis, HDL, High density lipoprotein, MRI, Magnetic resonance imaging, Endocrinology, Diabetes and Metabolism, Cardiomyopathy, Glycogen storage disease type III, Biochemistry, Glycogen storage disease type III (GSD III), Liver disease, Endocrinology, and myopathy, Biology (General), GDE, Glycogen debrancher enzyme, LT, liver transplantation, Ejection fraction, TGs, Triglycerides, CPK, Creatine phosphokinase, US, Ultrasound, Biomarker (medicine), GGT, Gamma glutamyl transferase, medicine.symptom, AST, Aspartate aminotransferase, Research Paper, GSD, Glycogen storage disease, medicine.medical_specialty, QH301-705.5, BMI, Body mass index, CEA, Carcinoembryonic antigen, Asymptomatic, AFP, Alpha-fetoprotein, R5-920, Internal medicine, CT scan, Computerized tomography scan, Genetics, medicine, Molecular Biology, BG, Blood glucose, business.industry, Glc4, Glucose tetrasaccharide, ALT, Alanine aminotransferase, Muscle weakness, DM, Diabetes mellitus, Left ventricular hypertrophy (LVH), medicine.disease, Hypoglycemia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d29ad825a5f907e52901bf8fcd98ecc5
https://doi.org/10.1016/j.ymgmr.2021.100821

المؤلفون: Sarah P, Young, Aleena, Khan, Ela, Stefanescu, Andrea M, Seifts, Ghada, Hijazi, Stephanie, Austin, Priya S, Kishnani

المصدر: JIMD Reports

مصطلحات موضوعية: Research Report, uncooked cornstarch, Hex4, biomarker, Research Reports, Glc4, 24‐hour urine, glucose tetrasaccharide, glycogen storage disease type III

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2ed1a74b5085f7c7fa4ff3ac9edd2747
https://pubmed.ncbi.nlm.nih.gov/33728245

المؤلفون: Laura Nagy, Ghada Hijazi, Sarah Herd, Maya Ram, Jolynn Dickson, Michal Inbar-Feigenberg, Nisha Pai

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)

مصطلحات موضوعية: UCCS, uncooked cornstarch, GSD, Glycogen storage disease, Glucose control, BMI, body mass index, AST, aspartate aminotransferase, Hypoglycemia, Nocturnal, Modified starch, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, ALT, alanine aminotransferase, abdominal US, abdominal ultrasound, hrs, hours, Genetics, WMHMS, waxy maize heat modified starch, Medicine, cm, centimeter, Waxy maize heat modified starch (WMHMS), Prospective cohort study, Molecular Biology, lcsh:QH301-705.5, 0303 health sciences, Glycogen storage disease type I, lcsh:R5-920, TGs, triglycerides, business.industry, Continuous nocturnal pump feed (CNPF), 030305 genetics & heredity, Treatment options, Retrospective cohort study, Uncooked cornstarch (UCCS), medicine.disease, Glycogen storage disease (GSD), GI, gastrointestinal, chemistry, lcsh:Biology (General), Anesthesia, kg, kilogram, CNPF, continuous nocturnal pump feed, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d381b396d8d3488437a03dbd2f704eb8
https://pubmed.ncbi.nlm.nih.gov/31844626