Výsledky vyhledávání - "Jennifer L, Goldstein"

Akademický článek

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

Autor: Deeksha S. Bali, Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, Priya S. Kishnani

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 76-79 (2015)

Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the

Externí odkaz: https://doaj.org/article/68affffbf1ab48a4b6d3c7d268c57d59

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Mondo: Unifying diseases for the world, by the world

Autor: Nicole A Vasilevsky, Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni, Gioconda F Alyea, Joanna S Amberger, Larry Babb, James P Balhoff, Taylor I Bingaman, Gully A Burns, Orion J Buske, Tiffany J Callahan, Leigh C Carmody, Paula Carrio Cordo, Lauren E Chan, George S Chang, Sean L Christiaens, Michel Dumontier, Laura E Failla, May J Flowers, H. Alpha Garrett, Jennifer L Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L Harris, Jason A Hilton, Daniel S Himmelstein, Charles Tapley Hoyt, Megan S Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna R Maglott, Adriana J Malheiro, Birgit H M Meldal, Monica C Munoz-Torres, Tristan H Nelson, Frank W Nicholas, David Ochoa, Daniel P Olson, Tudor I Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L Rehm, Lyubov Remennik, Erin R Riggs, Paola Roncaglia, Justyne E Ross, Marion F Shadbolt, Kent A Shefchek, Morgan N Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L Storm, Doron Stupp, Gregory S Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, Darin Tay, Courtney L Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H Wagner, Danielle Welter, Patricia L Whetzel, Lori L Whiteman, Valerie Wood, Colleen H Xu, Andreas Zankl, Xingmin Aaron Zhang, Christopher G Chute, Peter N Robinson, Christopher J Mungall, Ada Hamosh, Melissa A Haendel

There are thousands of distinct disease entities and concepts, each of which are known by different and sometimes contradictory names. The lack of a unified system for managing these entities poses a major challenge for both machines and humans that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eb95e9f275c4c5ac6590aa22f6896dbb
https://doi.org/10.1101/2022.04.13.22273750

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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Autor: Christa Lese Martin, Juliann M. Savatt, Amy K. Johnson, Deborah I. Ritter, Erin Rooney Riggs, Julianne M. O’Daniel, Patti Krautscheid, Karen E. Wain, Jennifer L. Goldstein, Brianna Lepore, Danielle R. Azzariti

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

Purpose: Genomic testing is routinely utilized across clinical settings and can have significant variant interpretation challenges. The extent of genetic counselor (GC) engagement in variant interpretation in clinical practice is unknown. This study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567824276783984928fa8da124a40fbb
https://doi.org/10.1038/s41436-019-0705-9

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Autor: Yang Zhao, Raymond Y. Wang, Nancy D. Leslie, Priya S. Kishnani, David Kronn, Jennifer L. Goldstein, John W. Day, James B. Gibson, Kristina An Haack, Susan Sparks, David W. Stockton, Pranoot Tanpaiboon, Loren D.M. Pena, Si Houn Hahn, Richard Hillman, Michael J. Gambello

Publikováno v: Genetics in Medicine

Purpose To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date. Methods Patients aged ≥1 year with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e5f6bddac6c1bf107ecaba20545014
https://doi.org/10.1038/s41436-019-0527-9

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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Publikováno v: Genome Medicine
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)

Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comprehensive c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebcfcda7df773ca429b64266180178c9
https://pubmed.ncbi.nlm.nih.gov/35039090

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Treatment outcome of creatine transporter deficiency: international retrospective cohort study

Autor: Lionel Van Maldergem, Theodora U. J. Bruun, Dwight D. Koeberl, Sarah Sidky, Saadet Mercimek-Andrews, Gajja S. Salomons, Katrin Õunap, Marie-Cécile Nassogne, Francoise-Guillaume Debray, Andreas Schulze, Anabela O. Bandeira, Jennifer L. Goldstein, Siobhan O’Sullivan, Can Ficicioglu, Diogo Luísa, Kairit Joost

Publikováno v: Metabolic brain disease, 33(3), 875-884. Springer New York
Metabolic brain disease, Vol. 33, no. 3, p. 875-884 (2018)
Bruun, T U J, Sidky, S, Bandeira, A O, Debray, F-G, Ficicioglu, C, Goldstein, J, Joost, K, Koeberl, D D, Luísa, D, Nassogne, M-C, O’Sullivan, S, Õunap, K, Schulze, A, van Maldergem, L, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of creatine transporter deficiency: international retrospective cohort study ', METABOLIC BRAIN DISEASE, vol. 33, no. 3, pp. 875-884 . https://doi.org/10.1007/s11011-018-0197-3
METABOLIC BRAIN DISEASE, 33(3), 875-884. Springer New York

To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c5fdbfc8bb05d9a35ebce3d4434c6dd
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041896490&origin=inward

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Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

Publikováno v: European journal of paediatric neurology : EJPN, 22(3), 369-379. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders Ltd
Khaikin, Y, Sidky, S, Abdenur, J, Anastasi, A, Ballhausen, D, Buoni, S, Chan, A, Cheillan, D, Dorison, N, Goldenberg, A, Goldstein, J, Hofstede, F C, Jacquemont, M-L, Koeberl, D D, Lion-Francois, L, Lund, A M, Mention, K, Mundy, H, O'Rourke, D, Pitelet, G, Raspall-Chaure, M, Tassini, M, Billette de Villemeur, T, Williams, M, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study ', European Journal of Paediatric Neurology, vol. 22, no. 3, pp. 369-379 . https://doi.org/10.1016/j.ejpn.2018.02.007

Purpose Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f01cafdcf14c1a438d510cd8b009e6
https://doi.org/10.1016/j.ejpn.2018.02.007

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