المؤلفون: Ren, Jianwei, Ma, Yufang, Ma, Mingsheng, Ding, Juan, Jiang, Jingjing, Zheng, Xin^{Aff1, IDs00216023049645_cor6}, Han, Xiaohong^{Aff1, IDs00216023049645_cor7}

المصدر: Analytical and Bioanalytical Chemistry. 415(27):6863-6871

المؤلفون: Katherine H. Kim, Ankit K. Desai, Erika R. Vucko, Tracy Boggs, Priya S. Kishnani, Barbara K. Burton

المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100981- (2023)

مصطلحات موضوعية: Pompe disease, Anti-drug antibody titers, Enzyme replacement therapy, Immune modulation therapy, Urine glucose tetrasaccharide (Glc4), Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000277; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/a4e5cd8daf564e5ba10738d304447e3f

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: Halaby, Carine A., Young, Sarah P., Austin, Stephanie, Stefanescu, Ela, Bali, Deeksha, Clinton, Lani K., Smith, Brian, Pendyal, Surekha, Upadia, Jariya, Schooler, Gary R., Mavis, Alisha M., Kishnani, Priya S.^Aff1

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2686-2694

المؤلفون: Pakanová, Zuzana^Aff1, Matulová, Mária, Uhliariková, Iveta, Behúlová, Darina, Šalingová, Anna, Hlavatá, Anna, Juríčková, Katarína, Nemčovič, Marek, Pätoprstý, Vladimír, Mucha, Ján

المصدر: Chemical Papers. 73(3):701-711

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تسجيل الدخول للوصول الكامل.

المؤلفون: Chien, Yin-Hsiu^Aff8, Goldstein, Jennifer L.^Aff9, Hwu, Wuh-Liang^Aff8, Smith, P. Brian^Aff10, Lee, Ni-Chung^Aff8, Chiang, Shu-Chuan^Aff8, Tolun, Adviye A.^{Aff9, Aff12}, Zhang, Haoyue^Aff9, Vaisnins, Amie E.^Aff9, Millington, David S.^Aff9, Kishnani, Priya S.^Aff9, Young, Sarah P.^{Aff9, Aff11}

المساهمون: Zschocke, Johannes, Editor-in-chief^{Aff1, Aff2}, Baumgartner, Matthias, editor^Aff3, Morava, Eva, editor^Aff4, Patterson, Marc, editor^Aff5, Rahman, Shamima, editor^Aff6, Peters, Verena, editor^Aff7

المصدر: JIMD Reports, Volume 19. 19:67-73

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: Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina

المساهمون: Clinical Genetics, Pediatrics

المصدر: Molecular Genetics and Metabolism Reports, 33:100929. Elsevier

مصطلحات موضوعية: Newborn screening, electromyography, digital microfluidics, variants of uncertain significance, cross-reactive immunological material, Gross Motor Function Measure, DBS, Medical Research Council Scale, Endocrinology, EMG, NBS, IOPD, magnetic resonance imaging, GAA, immunotolerance induction, LVMI, left ventricular max index, ejection fraction, Acid α-glucosidase, CLIR, Collaborative Laboratory Integrated Reports, CRIM, cross-reactive immunological material, DBS, dried blood spot, DMF, digital microfluidics, ECG, electrocardiogram, EF, ejection fraction, EMG, electromyography, ERT, enzyme replacement therapy, Enzyme replacement therapy, GAA, acid α-glucosidase, GMFM-88, Gross Motor Function Measure, Glc4, glucose tetrasaccharide, IOPD, infantile-onset Pompe disease, ITI, immunotolerance induction, LOPD, late-onset Pompe disease, LVMI, left ventricular max index, MFM-20, motor function measurement, MRC, Medical Research Council Scale, MRI, magnetic resonance imaging, MS/MS, tandem mass spectrometry, NBS, newborn screening, PBMC, peripheral blood mononuclear cells, PD, Pompe disease, PPV, positive predictive value, Pompe disease, RUSP, Recommended Uniform Screening Panel, Tandem mass-spectrometry, Urinary tetrasaccharide, VUS, variants of uncertain significance, nv, normal values, rhGAA, recombinant human GAA, CLIR, peripheral blood mononuclear cells, rhGAA, CRIM, dried blood spot, MRC, LOPD, GMFM-88, PD, ERT, MRI, motor function measurement, PPV, Recommended Uniform Screening Panel, electrocardiogram, Glc4, late-onset Pompe disease, DMF, RUSP, nv, tandem mass spectrometry, Genetics, MS/MS, MFM-20, normal values, Molecular Biology, glucose tetrasaccharide, ECG, Collaborative Laboratory Integrated Reports, PBMC, EF, VUS, ITI, positive predictive value, infantile-onset Pompe disease, recombinant human GAA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cbaa38ae1a4fd14ae67719200c633
https://hdl.handle.net/11577/3468263

المؤلفون: Pakanová, Zuzana, Matulová, Mária, Behúlová, Darina, Šalingová, Anna, Hlavatá, Anna, Pätoprstý, Vladimír, Mucha, Ján

المصدر: Chemical Papers. March 2016 70(3):265-271