Zobrazeno 1 - 10
of 65
pro vyhledávání: '"INFANTILE TYPE"'
Autor:
Xiulan Lu, Weijian Chen, Liping Li, Xinyuan Zhu, Caizhi Huang, Saijun Liu, Yongjia Yang, Yaowang Zhao
Publikováno v:
Frontiers in Pharmacology, Vol 10 (2019)
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolit
Externí odkaz:
https://doaj.org/article/18a657f3c89246cba19b60a706da4e51
Autor:
Mark S. Sands, Jonathan D. Cooper, Joshua T. Dearborn, John R. Østergaard, Hemanth R. Nelvagal
Publikováno v:
Neuropathology and Applied Neurobiology
Nelvagal, H R, Dearborn, J T, Ostergaard, J R, Sands, M S & Cooper, J D 2021, ' Spinal manifestations of CLN1 disease start during the early postnatal period ', Neuropathology and Applied Neurobiology, vol. 47, no. 2, pp. 251-267 . https://doi.org/10.1111/nan.12658
Nelvagal, H R, Dearborn, J T, Ostergaard, J R, Sands, M S & Cooper, J D 2021, ' Spinal manifestations of CLN1 disease start during the early postnatal period ', Neuropathology and Applied Neurobiology, vol. 47, no. 2, pp. 251-267 . https://doi.org/10.1111/nan.12658
The spinal cord appears especially vulnerable in CLN1 disease, a fatal inherited lysosomal storage disorder. Our data reveal a much earlier onset of spinal cord disease and accompanying behavioural changes in CLN1 mice, while spinal maturation is sti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4231ac8969d9dea8d88d72974cdaedcf
http://europepmc.org/articles/PMC7867600
http://europepmc.org/articles/PMC7867600
Autor:
Joni A. Turunen, Ruth Williams, Margie Frazier, Emily de los Reyes, Kristen Drago, Minna Laine, Sharon King, Elaine C. Wirrell, Tanya Levin, Heather R. Adams, Angela Schulz, Alessandro Simonati, Jonathan W. Mink, Norberto Guelbert, Danielle Peifer, Meral Topçu, Erika F. Augustine, Miriam Nickel
Publikováno v:
Pediatric neurology. 120
Background: CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1033998e07f02ffe4c877d213c18ce7
https://pubmed.ncbi.nlm.nih.gov/34000449
https://pubmed.ncbi.nlm.nih.gov/34000449
Autor:
Ribić, Lucija
Interceptivna i preventivna ortodoncija su najraniji oblici ortodontske terapije koji provode terapiju već u mliječnoj ili ranoj mješovitoj denticiji. Preventivna ortodoncija se bavi educiranjem roditelja i djeteta o štetnim navikama i spriječav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0238efe02c977fcaac820c411665a6a0
https://www.bib.irb.hr/1073500
https://www.bib.irb.hr/1073500
Autor:
Xiulan, Lu, Weijian, Chen, Liping, Li, Xinyuan, Zhu, Caizhi, Huang, Saijun, Liu, Yongjia, Yang, Yaowang, Zhao
Publikováno v:
Frontiers in Pharmacology
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b0f801ec54905de272a8f502d9586bb1
https://pubmed.ncbi.nlm.nih.gov/30787879
https://pubmed.ncbi.nlm.nih.gov/30787879
Akademický článek
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Autor:
Francesca Griggio, Marzia Bianchi, Rosalba Carrozzo, Salvatore Benfatto, Massimo Delledonne, Alessandro Simonati, Filippo M. Santorelli, Arvydas Dapkunas, Stefano Doccini, Maciej Lalowski, Francesco Pezzini
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Frontiers in Molecular Neuroscience
Frontiers in Molecular Neuroscience
CLN1 disease (OMIM # 256730) is an early childhood ceroid-lipofuscinosis associated with mutated CLN1, whose product Palmitoyl-Protein Thioesterase 1 (PPT1) is a lysosomal enzyme involved in the removal of palmitate residues from S-acylated proteins.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f07e50c7f8523dfaaae5c01a75e726f
Akademický článek
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Akademický článek
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