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Start Over Author "April Studinski" Topic molecular biology
13 results on '"April Studinski"'

2. IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN AS FLAVIN ADENINE DINUCLEOTIDE SYNTHASE DEFICIENCY: A RETROSPECTIVE CLIR APPROACH

Author

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, and Dimitar Gavrilov

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
Published
2023
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3. Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

Author

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, and Dawn Peck

Subjects
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
Abstract

Purpose To describe an efficient and effective multiplex screening strategy for sulfatide degradation disorders and mucolipidosis type II/III (MLII/III) using 3 mL of urine. Methods Glycosaminoglycans were analyzed by liquid chromatography-tandem mass spectrometry. Matrix assisted laser desorption/ionization-time of flight tandem mass spectrometry was used to identify free oligosaccharides and identify 22 ceramide trihexosides and 23 sulfatides, which are integrated by 670 calculated ratios. Collaborative Laboratory Integrated Reports (CLIR; https://clir.mayo.edu ) was used for post-analytical interpretation of the complex metabolite profile and to aid in the differential diagnosis of abnormal results. Results Multiplex analysis was performed on 25 sulfatiduria case samples and compiled with retrospective data from an additional 15 cases revealing unique patterns of biomarkers for each disorder of sulfatide degradation (MLD, MSD, and Saposin B deficiency) and for MLII/III, thus allowing the formulation of a novel algorithm for the biochemical diagnosis of these disorders. Conclusions Comprehensive and integrated urine screening could be very effective in the initial workup of patients suspected of having a lysosomal disorder as it covers disorders of sulfatide degradation and narrows down the differential diagnosis in patients with elevated glycosaminoglycans.

Published
2020
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8. How does plasma oxysterols analysis compare to fibroblast filipin staining for diagnosis of Niemann-Pick C disease?

Author

Devin Oglesbee, Kimiyo Raymond, Gisele Pino, Dawn Peck, Dietrich Matern, Sara Minnich, Amy L. White, Piero Rinaldo, Dimitar Gavrilov, April Studinski, Coleman T. Turgeon, and Silvia Tortorelli

Subjects
Pathology, medicine.medical_specialty, Chemistry, Endocrinology, Diabetes and Metabolism, Biochemistry, Filipin, Staining, chemistry.chemical_compound, Endocrinology, medicine.anatomical_structure, Genetics, medicine, Fibroblast, Molecular Biology
Published
2021
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9. Comparison of psychosine analysis in dried blood spots and red blood cells in Krabbe disease

Author

Joanne Kurtzberg, Vinod K. Prasad, Devin Oglesbee, Jennifer Rubin, April Studinski, Piero Rinaldo, Silvia Tortorelli, Martin G. Bialer, Laura Pisani, Kimiyo Raymond, Sharon Chen, Peter R. Baker, Alanna Strong, Amy L. White, Nicole Engelhardt, Rachel Hickey, Dietrich Matern, Joseph J. Orsini, George E. Hoganson, Leighann Sremba, Maria L. Escolar, Dawn Peck, Michael H. Gelb, Adam J. Guenzel, Dimitar Gavrilov, Jennifer Burton, Gisele Pino, and Coleman T. Turgeon

Subjects
Pathology, medicine.medical_specialty, Spots, Endocrinology, Diabetes and Metabolism, Biology, medicine.disease, Biochemistry, Endocrinology, Genetics, Krabbe disease, medicine, Psychosine, Dried blood, Molecular Biology
Published
2021
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10. Improving the performance of newborn screening for mucopolysaccharidosis type II with second tier biomarker testing

Author

Meghan Strenk, Dawn Peck, Dimitar Gavrilov, Dietrich Matern, Piero Rinaldo, Esperanza Font-Montgomery, Jennifer L. Gannon, Devin Oglesbee, Tracy Klug, Amy L. White, Bryce A. Heese, Silvia Tortorelli, April Studinski, Jennifer Burton, Gisele Pino, Kimiyo Raymond, Randi Gadea, and George E. Hoganson

Subjects
Oncology, medicine.medical_specialty, Newborn screening, business.industry, Endocrinology, Diabetes and Metabolism, Biochemistry, Endocrinology, Internal medicine, Genetics, Medicine, Biomarker (medicine), Mucopolysaccharidosis type II, business, Molecular Biology
Published
2021
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11. The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease

Author

Gisele Pino, Meghan Strenk, Dimitar Gavrilov, Amy L. White, Sara Minnich, Dawn Peck, Jennifer L. Gannon, Piero Rinaldo, Anna Dennis, Bryce A. Heese, Sarah Viall, Devin Oglesbee, Esperanza Font-Montgomery, Silvia Tortorelli, Dietrich Matern, April Studinski, Kimiyo Raymond, Randi Gadea, and Austin Hamm

Subjects
Pediatrics, medicine.medical_specialty, Newborn screening, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, medicine.disease, business, Molecular Biology, Biochemistry, Fabry disease
Published
2021
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12. Improved differentiation between Krabbe disease variants, carrier status, and pseudo deficiency by measurement of psychosine

Author

Gessi Bentz Pino, Adam J. Guenzel, Dimitar Gavrilov, Piero Rinaldo, Dietrich Matern, April Studinski Jones, Amy L. White, Dawn Peck, Coleman T. Turgeon, Silivia Tortorelli, and Devin Oglesbee

Subjects
Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Immunology, Genetics, Psychosine, Carrier status, Krabbe disease, Medicine, business, medicine.disease, Molecular Biology, Biochemistry
Published
2019
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