المؤلفون: Angie H. Fares, Ankit K. Desai, Laura E. Case, Cassie Sharon, Amy Klinepeter, Amelia Kirby, Matthew T. Lisi, Rebecca L. Koch, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101141- (2024)

مصطلحات موضوعية: Infantile-onset Pompe disease, Enzyme replacement therapy, Newborn screening, High dose, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000946; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6ea6d9796f1448e0a4eef059199db424

المؤلفون: William B. Hannah, Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

المصدر: JIMD Reports, Vol 64, Iss 5, Pp 393-400 (2023)

مصطلحات موضوعية: adeno‐associated virus, gene therapy, Pompe disease, 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/d8832d4d282b4cac8148d3645a6ca744

المؤلفون: Chris Carter, Tracy Boggs, Laura E. Case, Priya Kishnani

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: glycogen storage disease type 2, lysosomal storage disease (LSD), alglucosidase alfa, avalglucosidase alfa, late-onset Pompe disease (LOPD), enzyme replacement therapy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1309146/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5038291030b64a4cacbe987b155fd22c

المؤلفون: David G. Jackson, Laura E. Case, Erin Huggins, Maggie Holland, Janet Blount, Lisa Hobson Webb, Priya S. Kishnani

المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100989- (2023)

مصطلحات موضوعية: Pompe disease, Ultrasound, Newborn screening, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000356; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/8db9c3e7bb6c4b70bcd62551fc430751

المؤلفون: Jessica M. Sun, Laura E. Case, Mohamad A. Mikati, Joan M.Jasien, Colleen McLaughlin, Barbara Waters‐Pick, Gordon Worley, Jesse Troy, Joanne Kurtzberg

المصدر: Stem Cells Translational Medicine, Vol 10, Iss 9, Pp 1258-1265 (2021)

مصطلحات موضوعية: cellular therapy, clinical trials, cord blood, human cord blood, nervous system, umbilical cord blood, Medicine (General), R5-920, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2157-6564; https://doaj.org/toc/2157-6580

URL الوصول: https://doaj.org/article/d6e7598575dd4f6a93445b623563ba1d

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: Chris Carter, Tracy Boggs, Laura E. Case, Priya Kishnani

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, glycogen storage disease type 2, lysosomal storage disease (LSD), alglucosidase alfa, avalglucosidase alfa, late-onset Pompe disease (LOPD), enzyme replacement therapy

Relation: https://figshare.com/articles/dataset/DataSheet1_Real-world_outcomes_from_a_series_of_patients_with_late_onset_Pompe_disease_who_switched_from_alglucosidase_alfa_to_avalglucosidase_alfa_pdf/25025630

الاتاحة: https://doi.org/10.3389/fgene.2024.1309146.s001
https://figshare.com/articles/dataset/DataSheet1_Real-world_outcomes_from_a_series_of_patients_with_late_onset_Pompe_disease_who_switched_from_alglucosidase_alfa_to_avalglucosidase_alfa_pdf/25025630

المؤلفون: Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

المصدر: Molecular Therapy.

مصطلحات موضوعية: Pharmacology, Drug Discovery, Genetics, Molecular Medicine, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ade7b2b9b5e1c9dfb4eab648fd879c08
https://doi.org/10.1016/j.ymthe.2023.02.014

المؤلفون: Barbara Waters-Pick, Joanne Kurtzberg, Jessica Sun, Jesse D. Troy, Colleen McLaughlin, Gordon Worley, Joan Jasien, Mohamad A. Mikati, Laura E. Case

المصدر: Stem Cells Translational Medicine, Vol 10, Iss 9, Pp 1258-1265 (2021)
Stem Cells Translational Medicine

مصطلحات موضوعية: 0301 basic medicine, Medicine (General), Gross motor skill, Graft vs Host Disease, Human Clinical Articles, Umbilical cord, human cord blood, Cerebral palsy, Cell therapy, 03 medical and health sciences, 0302 clinical medicine, R5-920, Human Clinical Article, HLA Antigens, Spastic, medicine, Humans, Platelet, Adverse effect, Child, Cord / Cord Blood Stem Cells (WJ‐MSCs), clinical trials, QH573-671, business.industry, Cerebral Palsy, Siblings, nervous system, Infant, Cell Biology, General Medicine, cellular therapy, medicine.disease, Fetal Blood, 030104 developmental biology, medicine.anatomical_structure, Cord blood, Anesthesia, Child, Preschool, cord blood, umbilical cord blood, business, Cytology, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d760c42b784285adb91a27077739ec1a
https://doaj.org/article/d6e7598575dd4f6a93445b623563ba1d

المؤلفون: Jessica M. Sun, Laura E. Case, Colleen McLaughlin, Alicia Burgess, Natalie Skergan, Sydney Crane, Joan M. Jasien, Mohamad A. Mikati, Jesse Troy, Joanne Kurtzberg

المصدر: Developmental medicine and child neurology. 64(12)

مصطلحات موضوعية: Male, Cerebral Palsy, Cell- and Tissue-Based Therapy, Hematopoietic Stem Cell Transplantation, Infant, Mesenchymal Stem Cells, Fetal Blood, Developmental Neuroscience, Child, Preschool, Pediatrics, Perinatology and Child Health, Humans, Female, Neurology (clinical), Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285a31294c8e746465e68aa23eff4197
https://pubmed.ncbi.nlm.nih.gov/35811372

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: Erin Huggins, Maggie Holland, Laura E. Case, Janet Blount, Andrew P. Landstrom, Harrison N. Jones, Priya S. Kishnani

المصدر: Molecular genetics and metabolism. 135(3)

مصطلحات موضوعية: Endocrinology, Neonatal Screening, Phenotype, Glycogen Storage Disease Type II, Endocrinology, Diabetes and Metabolism, Homozygote, Mutation, Genetics, Infant, Newborn, Humans, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9e4d555eb6ef594b63bd4d4f5762bd2
https://pubmed.ncbi.nlm.nih.gov/35123877

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: Jessica Sun, Laura E. Case, Mohamad A. Mikati, Natalie Skergan, Joanne Kurtzberg, Jesse D. Troy, Colleen McLaughlin, Joan Jasien

المصدر: Stem Cells Transl Med
Stem Cells Translational Medicine, Vol 10, Iss S1, Pp S6-S6 (2021)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Medicine (General), QH573-671, business.industry, Mesenchymal stem cell, Cell Biology, General Medicine, medicine.disease, Umbilical cord, Cerebral palsy, law.invention, medicine.anatomical_structure, R5-920, Randomized controlled trial, law, Umbilical cord tissue, medicine, Clinical Trials—Regenerative Medicine, business, Cytology, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc32b55933c52126d8140c446d2e3c35
https://europepmc.org/articles/PMC8449595/

المؤلفون: Sang-oh Han, Priya S. Kishnani, Laura E. Case, Beth L. Thurberg, Edward C. Smith, Deeksha Bali, Sarah P. Young, Crista Walters, Dwight D. Koeberl, Ankit K. Desai

المصدر: Molecular Genetics and Metabolism. 129:67-72

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Vital capacity, Supine position, Endocrinology, Diabetes and Metabolism, Vital Capacity, Walk Test, Disease, 030105 genetics & heredity, Biochemistry, Late Onset Disorders, law.invention, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Double-Blind Method, Randomized controlled trial, immune system diseases, law, Forced Expiratory Volume, Genetics, Humans, Medicine, Albuterol, Enzyme Replacement Therapy, Muscle, Skeletal, Adverse effect, Molecular Biology, Glycogen Storage Disease Type II, business.industry, Enzyme replacement therapy, Middle Aged, respiratory tract diseases, Clinical trial, Treatment Outcome, Phase i ii, Anesthesia, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef9d80b74578edbea6e4b0b5ba9a4450
https://doi.org/10.1016/j.ymgme.2019.12.008

المؤلفون: Jill Marcus, Maragatha Kuchibhatla, Laura E. Case, Priya S. Kishnani, Richard M. Kravitz, Lisa D. Hobson Webb, Kelly D. Crisp, Milisa T. Batten, Harrison N. Jones

المصدر: Mol Genet Metab

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Polysomnography, 030105 genetics & heredity, Biochemistry, Article, law.invention, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Randomized controlled trial, law, Genetics, Respiratory muscle, medicine, Expiration, Molecular Biology, medicine.diagnostic_test, business.industry, Enzyme replacement therapy, Gait, Clinical trial, Regimen, Physical therapy, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5843365f70bd644738b252b5a5d3ee95
https://doi.org/10.1016/j.ymgme.2019.05.001

المؤلفون: Aleena A. Khan, Stephanie Austin, Mihaela Stefanescu, Samuela A. Fernandes, Laura E. Case, Michael Bowling, Priya S. Kishnani, Tracy Boggs

المصدر: JIMD Reports

مصطلحات موضوعية: Research Report, medicine.medical_specialty, late‐onset Pompe disease, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Genetics and Molecular Biology (miscellaneous), muscle function testing, whole‐body magnetic resonance imaging, Internal medicine, Internal Medicine, Medicine, muscle strength testing, Alglucosidase alfa, Newborn screening, medicine.diagnostic_test, business.industry, newborn screening, WBMRI, Pompe disease, Magnetic resonance imaging, Research Reports, Enzyme replacement therapy, Gait, IPD, Quartile, infantile Pompe disease, LOPD, Intramuscular fat, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add781a87e387a8a8cc0c6902ed78126
https://pubmed.ncbi.nlm.nih.gov/33473345

المؤلفون: Heidi Cope, Lauren A. Bailey, Mrudu Herbert, Mugdha Rairikar, Priya S. Kishnani, Laura E. Case, Stephanie Austin

المصدر: Mol Genet Metab

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Time Factors, Proximal muscle weakness, Endocrinology, Diabetes and Metabolism, Gross motor skill, Disease, Scoliosis, 030105 genetics & heredity, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Ptosis, Genetics, Humans, Medicine, Enzyme Replacement Therapy, Molecular Biology, Retrospective Studies, Glycogen Storage Disease Type II, business.industry, Infant, Newborn, Genetic Variation, Infant, Muscle weakness, Sleep apnea, alpha-Glucosidases, Enzyme replacement therapy, medicine.disease, Phenotype, Female, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f213e1501a0647705ecadac112cf8e4
https://doi.org/10.1016/j.ymgme.2018.08.009

المؤلفون: Lisa D. Hobson-Webb, Kelly D. Crisp, Richard M. Kravitz, Jill Marcus, Priya S. Kishnani, Harrison N. Jones, Laura E. Case, Milisa T. Batten, Maragatha Kuchibhatla

المصدر: Neuromuscul Disord

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Diaphragm, Late onset, Disease, Polysomnography, Breathing Exercises, Article, law.invention, Treatment and control groups, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Statistical significance, Medicine, Humans, Genetics (clinical), Aged, Ultrasonography, Muscle Weakness, medicine.diagnostic_test, business.industry, Glycogen Storage Disease Type II, Middle Aged, Respiratory Muscles, Diaphragm (structural system), Respiratory Function Tests, Clinical trial, 030104 developmental biology, Neurology, Inhalation, Anesthesia, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4f494a0b7ae825b794584679fab559
https://pubmed.ncbi.nlm.nih.gov/33127291

المؤلفون: Clara Kinnison, Laura E. Case, Gwendolyn E Moffett, Bianca Fox, Grace Brooks

المصدر: Pediatric Physical Therapy. 31:33-41

مصطلحات موضوعية: Gerontology, Down syndrome, Adolescent, Physical activity, MEDLINE, Physical Therapy, Sports Therapy and Rehabilitation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Age groups, 030225 pediatrics, Accelerometry, Humans, Medicine, Exercise physiology, Young adult, Child, Exercise, business.industry, Infant, Newborn, Infant, medicine.disease, Clinical Practice, Systematic review, Child, Preschool, Pediatrics, Perinatology and Child Health, Down Syndrome, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e06444d42c9137eed119106eb88665
https://doi.org/10.1097/pep.0000000000000556