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Your search keyword '"Nicole Engelhardt"' showing total 8 results
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8 results on '"Nicole Engelhardt"'

1. Further Evidence That

Author

Maura L, Boerio, Nicole, Engelhardt, Sanmati, Cuddapah, Jessica I, Gold, Isabella C, Marin, Amélie, Pinard, Dongchuan, Guo, Siddharth K, Prakash, and Dianna M, Milewicz

Published
2022

2. Expanding the phenotype, genotype and biochemical knowledge of <scp>ALG3‐CDG</scp>

Author

Eissa Faqeih, Jennifer Friedman, Hudson H. Freeze, Kierstin N Keller, Miao He, Earnest James Paul Daniel, Jie Chen, Hind Alsharhan, Eniko K. Pivnick, Christina Lam, Nicole Engelhardt, Amal Alhashem, Michael J. Bamshad, Deborah A. Nickerson, Pengfei Liu, Kimiyo Raymond, Pamela A Mazzeo, Jill A. Rosenfeld, Bobby G. Ng, and Andrew C. Edmondson

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycan, Microcephaly, Adolescent, Genotype, Bioinformatics, Mannosyltransferases, Article, Young Adult, Epilepsy, Congenital Disorders of Glycosylation, Genetics, medicine, Humans, Endocrine system, Genetics (clinical), Immunodeficiency, biology, Neural tube defect, business.industry, Infant, Newborn, Neural tube, Infant, medicine.disease, Hypotonia, carbohydrates (lipids), Phenotype, medicine.anatomical_structure, Child, Preschool, biology.protein, Female, medicine.symptom, business
Abstract

Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3-CDG frequently exhibit severe neurological involvement (epilepsy, microcephaly, and hypotonia), ocular anomalies, dysmorphic features, skeletal anomalies, and feeding difficulties. We present 10 unreported individuals diagnosed with ALG3-CDG based on molecular and biochemical testing with 11 novel variants in ALG3, bringing the total to 40 reported individuals. In addition to the typical multisystem disease seen in ALG3-CDG, we expand the symptomatology of ALG3-CDG to now include endocrine abnormalities, neural tube defects, mild aortic root dilatation, immunodeficiency, and renal anomalies. N-glycan analyses of these individuals showed combined deficiencies of hybrid glycans and glycan extension beyond Man(5)GlcNAc(2) consistent with their truncated lipid-linked precursor oligosaccharides. This spectrum of N-glycan changes is unique to ALG3-CDG. These expanded features of ALG3-CDG facilitate diagnosis and suggest that optimal management should include baseline endocrine, renal, cardiac, and immunological evaluation at the time of diagnosis and with ongoing monitoring.

Published
2021
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5. ALG8-CDG: new insights into an ultra-rare CDG

Author

Rita Barone, Nicole Engelhardt, Hudson H. Freeze, Christina Lam, Daniah Albokhari, Earnest James Paul Daniel, Miao He, Kimiyo Raymond, Bobby G. Ng, Andrew C. Edmondson, and Eva Morava-Kozicz

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
Published
2021
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6. 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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