Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sheri A Poskanzer"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100771- (2023)
Externí odkaz:
https://doaj.org/article/1ca5ecaa2c8f4a5a8b62fb22a2880077
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100780- (2023)
Externí odkaz:
https://doaj.org/article/4a297edb7ad849c9ada718eb5f0026b3
Autor:
Fan Yi, Sheri A. Poskanzer, Candace T. Myers, Jenny Thies, Christopher J. Collins, Remwilyn Dayuha, Phi Duong, Roderick Houwen, Si Houn Hahn
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 32-36 (2020)
Abstract Background Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic accumulation of copper in various organs. We previously reported a family with three con
Externí odkaz:
https://doaj.org/article/41223fb3ee5d4627b3c96b11503866a5
Autor:
Sheri A. Poskanzer, Jenny Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, Irene J. Chang, Hans D. Ochs, Troy R. Torgerson, Si Houn Hahn
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background We report the first case of a family with co‐occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X‐linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that featu
Externí odkaz:
https://doaj.org/article/58277d937ff14eec88d963fb1396847a
Autor:
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L. Goldner, Bobby G. Ng, Peter Witters, Amal Aqul, Frances Velez‐Bartolomei, Gregory M. Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Lourenco, Sheri A. Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M. Wang, Kimiyo M. Raymond, Matthew J. Schultz, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson, Miao He
Publikováno v:
J Inherit Metab Dis
ATP6AP1-CDG is an X-linked disorder typically characterized by hepatopathy, immunodeficiency and an abnormal type II transferrin glycosylation pattern. Here, we present eleven new patients and clinical updates with biochemical characterization on one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6be999f0b3a105c52b720c970f8e207
https://europepmc.org/articles/PMC10047170/
https://europepmc.org/articles/PMC10047170/
Autor:
Anita E. Beck, Piero Rinaldo, Sheri A. Poskanzer, Matthew J. Schultz, Christina Lam, Kris Liedtke, Silvia Tortorelli, James T. Bennett, Irene J. Chang, Jenny Thies, Noemi Vidal-Folch, Eric J. Allenspach, Coleman T. Turgeon, Devin Oglesbee, Kimiyo Raymond, Dimitar Gavrilov, Dietrich Matern
Publikováno v:
Am J Med Genet A
Glycosylation is a critical post/peri-translational modification required for the appropriate development and function of the immune system. As an example, abnormalities in glycosylation can cause antibody deficiency and reduced lymphocyte signaling,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec59fb612e0bed872a0111698e29735f
https://doi.org/10.1002/ajmg.a.61914
https://doi.org/10.1002/ajmg.a.61914
Autor:
Phi Duong, Remwilyn Dayuha, Roderick H. J. Houwen, Jenny Thies, Christopher J. Collins, Si Houn Hahn, Candace T. Myers, Fan Yi, Sheri A. Poskanzer
Publikováno v:
JIMD Reports
JIMD Reports, Vol 54, Iss 1, Pp 32-36 (2020)
JIMD Reports, Vol 54, Iss 1, Pp 32-36 (2020)
Background Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic accumulation of copper in various organs. We previously reported a family with three consecutive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23b956e0924280dcc9a2c988f4758dfc
http://europepmc.org/articles/PMC7358663
http://europepmc.org/articles/PMC7358663
Autor:
Phi Duong, Fan Yi, Jenny Thies, Sheri A. Poskanzer, Christopher J. Collins, Remwilyn Dayuha, Candace T. Myers, Troy R. Torgerson, Si Houn Hahn, Irene J. Chang, Hans D. Ochs
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Background We report the first case of a family with co‐occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X‐linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77caf7fce796293b82f5348097189fcd
https://pubmed.ncbi.nlm.nih.gov/32067425
https://pubmed.ncbi.nlm.nih.gov/32067425
Publikováno v:
European journal of pediatrics. 179(6)
The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty and need for further evaluation (i.e., video swallow study, VSS) in infants with Down syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b711ea5a974a2b92c6ee0184f48062
https://pubmed.ncbi.nlm.nih.gov/31984440
https://pubmed.ncbi.nlm.nih.gov/31984440