Zobrazeno 1 - 10
of 58
pro vyhledávání: '"RCDP"'
Publikováno v:
Clinical Case Reports, Vol 11, Iss 6, Pp n/a-n/a (2023)
Key Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal metabolism. RCDP type 2 is specifically caused by glyceronephosphate O‐acyl
Externí odkaz:
https://doaj.org/article/7a4274dc35104ec3acd78d8988861fb3
Autor:
Wedad Fallatah, Wei Cui, Erminia Di Pietro, Grace T. Carter, Brittany Pounder, Fabian Dorninger, Christian Pifl, Ann B. Moser, Johannes Berger, Nancy E. Braverman
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a peroxisome biogenesis disorder caused by defects in PEX7 leading to impairment in plasmalogen (Pls) biosynthesis and phytanic acid (PA) oxidation. Pls deficiency is the main pathogenic factor t
Externí odkaz:
https://doaj.org/article/77a6359dc970481a89c729b71f113d34
Autor:
Daniel S. Lemke
Publikováno v:
MedEdPORTAL, Vol 16 (2020)
Introduction For pediatric interns, it takes deliberate practice to translate the knowledge of what to do in emergencies into the procedural and communication skills required of a team member or team leader. This curriculum taught interns through sim
Externí odkaz:
https://doaj.org/article/2428ae09c42e4a5aa53be3290c35fc3d
Autor:
Wedad Fallatah, Tara Smith, Wei Cui, Dushmanthi Jayasinghe, Erminia Di Pietro, Shawn A. Ritchie, Nancy Braverman
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 1 (2020)
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder caused by mutations in peroxisomal genes essential for plasmalogen biosynthesis. Plasmalogens are a class of membrane glycerophospholipids containing a vinyl-ether-linked fatty al
Externí odkaz:
https://doaj.org/article/9a20bdb91c264e33bac85c9a0b50e106
Publikováno v:
MedEdPORTAL, Vol 13 (2017)
Introduction This curriculum includes two simulation cases for neonatal resuscitation training using the rapid cycle deliberate practice (RCDP) technique. RCDP is a simulation-based curriculum that presents participants with rounds of increasing diff
Externí odkaz:
https://doaj.org/article/25a3e4293cac4ef3be9208bed05cca8d
Akademický článek
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Akademický článek
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Autor:
Wedad Fallatah, Monica Schouten, Hans R. Waterham, Marc Engelen, Bwee Tien Poll-The, Nancy Braverman, Erminia Di Pietro, Christine Yergeau
Publikováno v:
Journal of inherited metabolic disease, 44(4), 1021-1038. Springer Netherlands
Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in genes encoding peroxisomal proteins required for plasmalogen (PL) biosynthesis, specifically PEX7 and PEX5 receptors, or GNPAT, AGPS and FAR1 enzymes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2bd84611e57db27d162286cdfa331d
https://pubmed.ncbi.nlm.nih.gov/33337545
https://pubmed.ncbi.nlm.nih.gov/33337545
Autor:
Shawn Ritchie, Dushmanthi Jayasinghe, Wedad Fallatah, Erminia Di Pietro, Tara C. Smith, Wei Cui, Nancy Braverman
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 1 (2020)
Disease Models & Mechanisms
Disease Models & Mechanisms
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder caused by mutations in peroxisomal genes essential for plasmalogen biosynthesis. Plasmalogens are a class of membrane glycerophospholipids containing a vinyl-ether-linked fatty al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951312a94148e395d288e63939376ca9
http://dmm.biologists.org/content/13/1/dmm042499
http://dmm.biologists.org/content/13/1/dmm042499
Autor:
Marziyeh Alamatsaz, Kamran Ghaedi, Motahare-Sadat Hashemi, Yousef Shafeghati, Mohammad Faghihi, Mohammad Hossein Nasr-Esfahani
Publikováno v:
International Journal of Pediatrics, Vol 6, Iss 2, Pp 7193-7200 (2018)
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. RCDP patients with the classic form of RCDP1 do not live more than 10- year.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::07a3ba674cc285b6c2d0ed1937bc20c6
http://ijp.mums.ac.ir/article_9556_c4804ce4536f685fd0a73a49c3fb656b.pdf
http://ijp.mums.ac.ir/article_9556_c4804ce4536f685fd0a73a49c3fb656b.pdf