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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 -
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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 -
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المؤلفون: Shino, Shimada, Bobby G, Ng, Amy L, White, Kim K, Nickander, Coleman, Turgeon, Kristen L, Liedtke, Christina T, Lam, Esperanza, Font-Montgomery, Charles M, Lourenco, Miao, He, Dawn S, Peck, Luis A, Umana, Crescenda L, Uhles, Devon, Haynes, Patricia G, Wheeler, Michael J, Bamshad, Deborah A, Nickerson, Tom, Cushing, Ryan, Gates, Natalia, Gomez-Ospina, Heather M, Byers, Fernanda B, Scalco, Noelia N, Martinez, Rani, Sachdev, Lacey, Smith, Annapurna, Poduri, Stephen, Malone, Rebekah V, Harris, Ingrid E, Scheffer, Sergio D, Rosenzweig, David R, Adams, William A, Gahl, May Christine V, Malicdan, Kimiyo M, Raymond, Hudson H, Freeze, Xiaohong, Zhang
المصدر: Journal of medical genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d43987ae7f70e65c7c9e2d98568529Test
https://pubmed.ncbi.nlm.nih.gov/35790351Test -
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المؤلفون: Patricia L. Hall, Kimiyo Raymond, William A. Gahl, Carlos Ferreira, Lynne A. Wolfe, Hudson H. Freeze, Christina Lam, Gerard T. Berry, Kim K. Nickander, John J. Alexander, Caroline M. Watson, Jon D. Sharer, Ghazia Asif
المصدر: Molecular Genetics and Metabolism. 124:82-86
مصطلحات موضوعية: Male, 0301 basic medicine, Analyte, Adolescent, Aspartylglucosaminuria, Endocrinology, Diabetes and Metabolism, Population, Oligosaccharides, Urine, Tandem mass spectrometry, Biochemistry, Young Adult, 03 medical and health sciences, Congenital Disorders of Glycosylation, Endocrinology, Tandem Mass Spectrometry, Genetics, medicine, Humans, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Child, education, NGLY1, Molecular Biology, Exome, chemistry.chemical_classification, education.field_of_study, business.industry, Infant, Oligosaccharide, medicine.disease, 030104 developmental biology, chemistry, Child, Preschool, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Immunology, Female, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e029f542c0bd6903e4a326fa9abd7863Test
https://doi.org/10.1016/j.ymgme.2018.03.002Test -
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المؤلفون: Piero Rinaldo, Silvia Tortorelli, Kim K. Nickander, Devin Oglesbee, Kimiyo Raymond, Dimitar Gavrilov, Dietrich Matern, Jean M. Lacey
المصدر: Molecular Genetics and Metabolism. 126:S108
مصطلحات موضوعية: chemistry.chemical_classification, Analyte, Mucolipidosis, Chemistry, Endocrinology, Diabetes and Metabolism, Globotriaosylceramide, Oligosaccharide, medicine.disease, Biochemistry, Fabry disease, Molecular biology, Metachromatic leukodystrophy, chemistry.chemical_compound, Endocrinology, Multiple sulfatase deficiency, Genetics, medicine, Multiplex, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::faaf9fb10d76ff2883e697a16b72b3adTest
https://doi.org/10.1016/j.ymgme.2018.12.273Test -
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المؤلفون: Devin Oglesbee, Kim K. Nickander, Piero Rinaldo, Kimiyo Raymond, Silvia Tortorelli, Dimitar Gavrilov, Dietrich Matern
المصدر: Molecular Genetics and Metabolism. 120:S102-S103
مصطلحات موضوعية: Multivariate statistics, Endocrinology, Chemistry, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, Pattern recognition, Artificial intelligence, business, MALDI-TOF Mass Spectrometry, Molecular Biology, Biochemistry, Interpretation (model theory)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::08d27f59d52eacd0fa26d288aa599f9dTest
https://doi.org/10.1016/j.ymgme.2016.11.258Test -
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المؤلفون: Kim K. Nickander, Michael Camilleri, Raul Urrutia, Phillip A. Low, Paula Carlson
المصدر: Autonomic Neuroscience. 120:97-103
مصطلحات موضوعية: Adult, Male, Tachycardia, Candidate gene, medicine.medical_specialty, Genotype, Arginine, Posture, Blood Pressure, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Denaturing high performance liquid chromatography, Cellular and Molecular Neuroscience, Heart Rate, Internal medicine, medicine, Humans, Genetic Testing, Electron Transport Complex I, Norepinephrine Plasma Membrane Transport Proteins, Symporters, biology, Endocrine and Autonomic Systems, Middle Aged, Glutamine, Endocrinology, Norepinephrine transporter, biology.protein, Female, Receptors, Adrenergic, beta-2, Neurology (clinical), Orthostatic tachycardia, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dd14cd409c88b8deb0f90bf33794dc9Test
https://doi.org/10.1016/j.autneu.2005.05.001Test -
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المؤلفون: Kim K. Nickander, James D. Schmelzer, Phillip A. Low
المصدر: Journal of the Peripheral Nervous System. 7:96-103
مصطلحات موضوعية: Male, Aging, Mitochondrial DNA, Population, Biology, DNA, Mitochondrial, Diabetes Mellitus, Experimental, Rats, Sprague-Dawley, Dorsal root ganglion, Ethidium, Ganglia, Spinal, medicine, Animals, Direct repeat, education, Southern blot, education.field_of_study, Staining and Labeling, General Neuroscience, Breakpoint, Streptozotocin, Molecular biology, Rats, medicine.anatomical_structure, Indicators and Reagents, Neurology (clinical), Sciatic nerve, Gene Deletion, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce3e19c8aa5521640e2968a0635677dTest
https://doi.org/10.1046/j.1529-8027.2002.02012.xTest -
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المؤلفون: Kim K. Nickander, Jeffrey K. Yao, Phillip A. Low, James D. Schmelzer, H. J. Tritschler, Paula J. Zollman, Yutaka Kishi
المصدر: Diabetes. 48:2045-2051
مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Diabetic neuropathy, Endocrinology, Diabetes and Metabolism, Glucose uptake, Fructose, Carbohydrate metabolism, Diabetes Mellitus, Experimental, Rats, Sprague-Dawley, chemistry.chemical_compound, Polyol pathway, Diabetic Neuropathies, Ganglia, Spinal, Internal medicine, Internal Medicine, medicine, Animals, Sorbitol, Protein Kinase C, Dose-Response Relationship, Drug, Thioctic Acid, Chemistry, medicine.disease, Sciatic Nerve, Rats, Lipoic acid, Glucose, Peripheral neuropathy, Endocrinology, lipids (amino acids, peptides, and proteins), Sciatic nerve, Energy Metabolism, Inositol
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95356894d91c9f7b53608c1cb16de02bTest
https://doi.org/10.2337/diabetes.48.10.2045Test -
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المصدر: American Journal of Kidney Diseases. 31:687-693
مصطلحات موضوعية: Male, Vitamin, medicine.medical_specialty, medicine.medical_treatment, Autosomal dominant polycystic kidney disease, Kidney, Random Allocation, chemistry.chemical_compound, Internal medicine, medicine, Polycystic kidney disease, Animals, Vitamin E, Analysis of Variance, Sex Characteristics, business.industry, Kidney metabolism, Rats, Inbred Strains, Polycystic Kidney, Autosomal Dominant, medicine.disease, Glutathione, Rats, medicine.anatomical_structure, Endocrinology, chemistry, Nephrology, Female, business, alpha-Tocopherol, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceefb54fe4ad5175c1bdab6548c546a0Test
https://doi.org/10.1053/ajkd.1998.v31.pm9531187Test