Zobrazeno 1 - 10
of 236
pro vyhledávání: '"Robert D Steiner"'
Autor:
Jaskaran S Bains, Erin M Carter, Kate P Citron, Adele L Boskey, Jay R Shapiro, Robert D Steiner, Peter A Smith, Michael B Bober, Tracy Hart, David Cuthbertson, Jeff Krischer, Peter H Byers, Melanie Pepin, Michaela Durigova, Francis H Glorieux, Frank Rauch, Joseph M Sliepka, V Reid Sutton, Brendan Lee, Members of the BBD Consortium, Sandesh CS Nagamani, Cathleen L Raggio
Publikováno v:
JBMR Plus, Vol 3, Iss 5, Pp n/a-n/a (2019)
Abstract Osteogenesis imperfecta (OI) is characterized by low bone mass and bone fragility. Using data from a large cohort of individuals with OI from the Osteogenesis Imperfecta Foundation's linked clinical research centers, we examined the associat
Externí odkaz:
https://doaj.org/article/6e4fbae8bcd74f8eb57849a4170f4b1a
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundX-linked hypophosphatemic rickets (XLH) is a rare genetic disease characterized by inappropriately elevated circulating fibroblast growth factor 23 (FGF-23) and subsequent urinary phosphate wasting. The primary clinical manifestations of XL
Externí odkaz:
https://doaj.org/article/c643fa210e9947d5a9b30f62ed4a2ccf
Autor:
Samuel S. Gidding, Christie M. Ballantyne, Marina Cuchel, Sarah de Ferranti, Lisa Hudgins, Allison Jamison, Mary P. McGowan, Amy L. Peterson, Robert D. Steiner, Melissa K. Uveges, Yunshu Wang
Publikováno v:
Global Heart, Vol 19, Iss 1, Pp 43-43 (2024)
Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare inherited condition that affects approximately one in 300,000 people. The disorder is characterized by extremely high, life-threatening levels of low-density lipoprotein (LDL) cholester
Externí odkaz:
https://doaj.org/article/d2058999a0ea4372bd20514d6dc45bef
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement. CTX
Externí odkaz:
https://doaj.org/article/ea2be3e68ba743128073fb3d9cabde54
Autor:
Steven J. Fliesler, Robert D. Steiner
Publikováno v:
Journal of Lipid Research, Vol 64, Iss 8, Pp 100421- (2023)
Externí odkaz:
https://doaj.org/article/b193092c4de14f709bdee26330d31807
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 434-445 (2022)
Abstract Hypophosphatasia (HPP) is a genetic condition with broad clinical manifestations caused by alkaline phosphatase (ALP) deficiency. Adults with HPP exhibit a wide spectrum of signs and symptoms. Dental manifestations including premature tooth
Externí odkaz:
https://doaj.org/article/e0be3073fc154120a7553e9e480c7a25
Autor:
Elsa G. Shapiro, Kyle Rudser, Alia Ahmed, Robert D. Steiner, Kathleen A. Delaney, Brianna Yund, Kelly King, Alicia Kunin-Batson, Julie Eisengart, Chester B. Whitley
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 32-39 (2016)
Objectives: The behavioral, adaptive and quality of life characteristics of attenuated mucopolysaccharidosis type II (MPS II) have not been well studied. Understanding changes over time in the attenuated phenotype may assist in helping achieve better
Externí odkaz:
https://doaj.org/article/b4310bed8f48446a84c4585451b2d6ed
Autor:
Lisa Bleyle, Hidde H. Huidekoper, Frederic M. Vaz, Renu Singh, Robert D. Steiner, Andrea E. DeBarber
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 11-15 (2016)
Background: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of bile acid synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial since an effective treat
Externí odkaz:
https://doaj.org/article/35491396e8964353bf0845f9b2bc6c19
Autor:
Antonio Federico, Surabhi Verma, Bulent Elibol, Tanyel Zubarioglu, Aad Verrips, Fanny Mochel, Gilad Yahalom, Bianca M L Stelten, Robert D. Steiner, Maria Teresa Dotti, Belina Sithole, Andrea Mignarri, Kate Hanman, Tzipora C. Falik-Zaccai
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience a diagnostic delay. Although early diagnosis and treatment initiation can improve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ea8aeecb7a345c50b88e1c68da5fff
https://doaj.org/article/56eced4666ed4a9294999a269eca7839
https://doaj.org/article/56eced4666ed4a9294999a269eca7839
Publikováno v:
Journal of Genetic Counseling. 30:1354-1357
There are no evidence-based guidelines to inform genetic counseling for consanguineous couples and their offspring. This focused revision builds on the expert opinions from the original publication of "Genetic Counseling and Screening of Consanguineo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e875f52577801653f8a301222fecfed
https://doi.org/10.1002/jgc4.1477
https://doi.org/10.1002/jgc4.1477