Zobrazeno 1 - 10
of 17
pro vyhledávání: '"John, Perreault"'
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101013- (2023)
Externí odkaz:
https://doaj.org/article/7478f096bc7c42d689df92b257b8df3b
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101001- (2023)
Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 an
Externí odkaz:
https://doaj.org/article/f3fb51c11aca47f49c9ed8fa1ae4f882
Autor:
An N. Dang Do, Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam, Rhonda E. Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova, Shawn D. O'Connor, Amarilis Sanchez‐Valle, Arve Vollo, Raymond Y. Wang, Zoe Wolfenson, John Perreault, Daniel S. Ory, Hudson H. Freeze, J. Lawrence Merritt, Forbes D. Porter
Publikováno v:
Journal of inherited metabolic disease, vol 46, iss 2
J Inherit Metab Dis
J Inherit Metab Dis
Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multi-systemic manifestations. Plasma bile acid and N-palmitoy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1fe60093ec40cb5561491e1ea6d777
https://escholarship.org/uc/item/39n7s551
https://escholarship.org/uc/item/39n7s551
Autor:
Fady Hannah-Shmouni, Beth A. Kozel, Niamh X. Cawley, An Dang Do, Audrey Noguchi, Christopher A. Wassif, Danielle A. Springer, Julia F Grafstein, Andrew Smith, Judith Miller, Audrey Thurm, Andreas Schulze, Dylan Hammond, Forbes D. Porter, Simona Bianconi, Mark D. Levin, Christopher F. Spurney, John Perreault, Zu-Xi Yu
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures, and autism spectrum disorder. This study was designed to inves
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16583aca1c976b29828aa804685a0a04
https://doi.org/10.1038/s41436-021-01224-8
https://doi.org/10.1038/s41436-021-01224-8
Autor:
Melanie Quintana, William A. Gahl, Levent Bayman, Scott A. Van Wart, Colleen Jodarski, Claire T. Driscoll, Chia-Ying Liu, Nuria Carrillo, Carla Ciccone, Galen O. Joe, Scott M. Berry, Rebecca Parks, John D. Heiss, Bradley Class, May Christine V. Malicdan, Kennan Bradley, Petcharat Leoyklang, Joseph A. Shrader, John Perreault, Christopher S. Coffey, Christina Slota, Marjan Huizing
Publikováno v:
Genetics in Medicine
BASE-Bielefeld Academic Search Engine
BASE-Bielefeld Academic Search Engine
PURPOSE To evaluate the safety and efficacy of N-acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the rate-limiting enzyme in N-acetylneuraminic acid (Neu5Ac) biosynthesis. METHODS We conducted an open-labe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a82c0347e0a4ccd7fefea938b01afb7
http://europepmc.org/articles/PMC8553608
http://europepmc.org/articles/PMC8553608
Autor:
Brian Hill, Thien Nguyen, Timothy Quang, Viswanath Gorti, Amir H. Gandjbakhche, Babak Shadgan, Tomás González Cano, Kosar Khaksari, John Perreault, Emily Blick, Ravi Malpani
Publikováno v:
Journal of Medical Imaging
Purpose: The recent coronavirus disease 2019 (COVID-19) pandemic, which spread across the globe in a very short period of time, revealed that the transmission control of disease is a crucial step to prevent an outbreak and effective screening for vir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4814ef65003c13cd0abf0cc156079594
http://europepmc.org/articles/PMC7995646
http://europepmc.org/articles/PMC7995646
Autor:
William A. Gahl, John D. Heiss, Vandana Singhal, Joseph A. Shrader, Angela Gruber, John Perreault, Prashant Chittiboina, Christina Slota, Aaron Poliak, Christina Hayes, Carla Ciccone, Marjan Huizing, May Christine V. Malicdan, Jennifer Garland, Joshi Stephen, Bradley Class, Ralitza H. Gavrilova, Galen O. Joe, Nuria Carrillo
Publikováno v:
Molecular Genetics & Genomic Medicine. 5:410-417
Background GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)-N-acetylglucosamine (G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64c6152e6e474ac65f435d799e37663d
https://doi.org/10.1002/mgg3.300
https://doi.org/10.1002/mgg3.300
Autor:
Jennifer, Garland, Joshi, Stephen, Bradley, Class, Angela, Gruber, Carla, Ciccone, Aaron, Poliak, Christina P, Hayes, Vandana, Singhal, Christina, Slota, John, Perreault, Ralitza, Gavrilova, Joseph A, Shrader, Prashant, Chittiboina, Galen, Joe, John, Heiss, William A, Gahl, Marjan, Huizing, Nuria, Carrillo, May Christine V, Malicdan
Publikováno v:
Molecular Genetics & Genomic Medicine
Background GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d96e2e9a8cd057c3cfe6d0e2768d956a
https://pubmed.ncbi.nlm.nih.gov/28717665
https://pubmed.ncbi.nlm.nih.gov/28717665
Publikováno v:
Spinal cord. 54(9)
To measure body mass index (BMI) and ambulation changes for a morbidly obese, 47-year-old man with chronic motor-incomplete tetraplegia after gastric sleeve surgery.A morbidly obese man, BMI=44 kg m(-)(2), with chronic C5 AIS D tetraplegia underwent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f54c12a26034bd1f0948bd36fac5bcc
https://pubmed.ncbi.nlm.nih.gov/26927296
https://pubmed.ncbi.nlm.nih.gov/26927296
A 41-year-old man with a history of C6 American Spinal Injury Association (ASIA) Impairment Scale (AIS) C spinal cord injury (SCI), enrolled in an Institutional Review Board (IRB)-approved, robotic-assisted body weight-supported treadmill training (B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61b7b13d1879b50f80ce806b0678f00
https://europepmc.org/articles/PMC3595964/
https://europepmc.org/articles/PMC3595964/