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1دورية أكاديمية
المؤلفون: Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Dimitar Gavrilov, Devin Oglesbee, Matthew J. Schultz, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall
المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101110- (2024)
مصطلحات موضوعية: Phenylketonuria, Phenylalanine, Pegvaliase, Pre-analytical error, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000636Test; https://doaj.org/toc/2214-4269Test
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2دورية أكاديمية
المؤلفون: Iris Pantovich, Amy White, April Studinski, Weiyi Mu, Bonnie Kaas, Matthew Bower, Gisele Pino, Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart, Kandelaria Rumilla, Wei Shen, Zhiyv Niu, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Ralitza Gavrilova, Devin Oglesbee
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100880- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424000268Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Dayebgadoh Gerald, Silvia Tortorelli, Amy White, Dawn Peck, Gisele Pino, April Studinski, Jason Eckerman, Bimal Chaudhari, Betsy Schmalz, Lance Rodan, Angela Sun, Emily Shelkowitz, Matthew Schultz, Devin Oglesbee, Dimitar Gavrilov, Patricia Hall, Dietrich Matern
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100004- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000043Test; https://doaj.org/toc/2949-7744Test
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4دورية أكاديمية
المؤلفون: Patricia Hall, Dawn Peck, Gisele Pino, April Studinski, Amy White, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100028- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000286Test; https://doaj.org/toc/2949-7744Test
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5
المؤلفون: Zinandré Stander, Zineb Ammous, Joanne Werker, Marcus Miller, Katherine Sapp, Bryan Hainline, Bryce Mendelsohn, April Studinski, Matthew Schultz, Patricia Hall, Dietrich Matern, Silvia Tortorelli, Devin Oglesbee, Dimitar Gavrilov
المصدر: Molecular Genetics and Metabolism. 138:107494
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::048f087a8ddcc0f9a2a341ccbb88f8bfTest
https://doi.org/10.1016/j.ymgme.2023.107494Test -
6
المؤلفون: Gisele Pino, Dawn Peck, April Studinski, Amy White, Dimitar Gavrilov, Devin Oglesbee, Silvia Tortorelli, Patricia Hall, Matthew Schultz, Dietrich Matern
المصدر: Molecular Genetics and Metabolism. 138:107469
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::327f56594347558d3838ff80669cba21Test
https://doi.org/10.1016/j.ymgme.2023.107469Test -
7
المؤلفون: Piero Rinaldo, Devin Oglesbee, Angela L. Hewitt, William Laxen, April Studinski, Jan Mendelt Tillema, Ester Perales-Clemente, Arne H. Graff, Brendan C. Lanpher
المصدر: JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021)
JIMD Reportsمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, subdural hematomas, lcsh:QH426-470, shaken baby syndrome, Endocrinology, Diabetes and Metabolism, Case Report, Case Reports, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Diseases of the endocrine glands. Clinical endocrinology, D‐2‐hydroxyglutaric aciduria, Epilepsy, Internal Medicine, medicine, Medical diagnosis, retinal hemorrhages, lcsh:RC648-665, Psychomotor retardation, business.industry, Macrocephaly, medicine.disease, Subdural Hematomas, Hypotonia, nonaccidental trauma, lcsh:Genetics, urine organic acids, Concomitant, medicine.symptom, business, Urine organic acids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d361e0068b27f46132bfdcbc5d2ad9Test
https://doaj.org/article/051f413ccae14ef8906e30cecd0550a0Test -
8
المؤلفون: Joanne Kurtzberg, Vinod K. Prasad, Adam J. Guenzel, Coleman T. Turgeon, Joan E. Pellegrino, Gisele Pino, Kimiyo Raymond, Amy L. White, Maria L. Escolar, Rachel Hickey, Devin Oglesbee, Dawn Peck, Piero Rinaldo, Ai Sakonju, Margie A. Ream, Silvia Tortorelli, Joseph J. Orsini, Natalie M. Shallow, April Studinski, Michael H. Gelb, Dimitar Gavrilov, Kim K. Nickander, Maria Laura Duque Lasio, Dietrich Matern
المصدر: Genetics in Medicine. 22:1108-1118
مصطلحات موضوعية: 0301 basic medicine, Newborn screening, business.industry, Galactocerebrosidase, Infant, Newborn, Psychosine, Disease, 030105 genetics & heredity, medicine.disease, Leukodystrophy, Globoid Cell, Dried blood spot, 03 medical and health sciences, Neonatal Screening, 030104 developmental biology, Pseudodeficiency alleles, Immunology, Krabbe disease, Humans, Medicine, Biomarker (medicine), Dried Blood Spot Testing, business, Genetics (clinical), Galactosylceramidase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47210c51ffe5b05fc9c0888ea3c4791Test
https://doi.org/10.1038/s41436-020-0764-yTest -
9
المؤلفون: Dietrich Matern, Kimiyo Raymond, Kim K. Nickander, Devin Oglesbee, Piero Rinaldo, Jean M. Lacey, April Studinski, Silvia Tortorelli, Amy M White, Maira Burin, Gisele Pino, Erin Conboy, Sara Minnich, Roberto Giugliani, Dimitar Gavrilov, Dawn Peck
المصدر: Molecular Genetics and Metabolism. 129:106-110
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Endocrinology, Diabetes and Metabolism, Urine, 030105 genetics & heredity, Tandem mass spectrometry, Mass spectrometry, Biochemistry, Glycosaminoglycan, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Mucolipidoses, Tandem Mass Spectrometry, Multiple sulfatase deficiency, Genetics, medicine, Lysosomal storage disease, Humans, Multiplex, Child, Molecular Biology, Glycosaminoglycans, Retrospective Studies, Sulfoglycosphingolipids, Chemistry, Infant, Middle Aged, medicine.disease, High-Throughput Screening Assays, Lysosomal Storage Diseases, Child, Preschool, Female, Differential diagnosis, Algorithms, Biomarkers, 030217 neurology & neurosurgery, Chromatography, Liquid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650af8ffc8e2fde22df2495f60bf668eTest
https://doi.org/10.1016/j.ymgme.2019.10.009Test -
10
المؤلفون: Gisele Pino, Kim Nickander, April Studinski, Dawn Peck, Amy White, Jean Lacey, Dimitar Gavrilov, Devin Oglesbee, Silvia Tortorelli, Dietrich Matern, Kimiyo Raymond
المصدر: Molecular Genetics and Metabolism. 135:S98-S99
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9279f86155a9548bfe0a6c2e9a325e56Test
https://doi.org/10.1016/j.ymgme.2021.11.258Test