Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Hyperammonemic coma"'
Autor:
Amir Kamal Hardani, Majid Aminzadeh
Publikováno v:
Iranian Journal of Neonatology, Vol 9, Iss 1, Pp 78-81 (2018)
Background: Transient hyperammonemia of the newborn (THAN) is an overwhelming condition presenting with coma within 2-3 days of life and requiring immediate treatment. The etiology of this condition remains unknown. Duration of coma determines the de
Externí odkaz:
https://doaj.org/article/e64289c2963e45cc92b35fbcf07b231e
Autor:
Laurent Leuger, Guillaume Halley, Juan Manuel Chao de la Barca, Chadi Homedan, Delphine Mirebeau-Prunier, Mikael Moriconi, Xavier Donin de Rosière, Pascal Reynier, Xavier Dieu
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 44-48 (2021)
JIMD Reports
JIMD Reports
Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by pol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::512cbcfd65bea0be4c0834e955beec76
https://doi.org/10.1002/jmd2.12251
https://doi.org/10.1002/jmd2.12251
Publikováno v:
La Pediatria Medica e Chirurgica, Vol 36, Iss 3 (2014)
Urea Cycle Disorders ( UCD ) are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC), an X-linked defect is the most frequent among them. It is responsible for hyperammonemia that can lead to chron
Externí odkaz:
https://doaj.org/article/d41823656baf42b5a614fc2ac1886c8f
Akademický článek
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Publikováno v:
C44. CRITICAL CARE CASE REPORTS: METABOLIC, RENAL, AND ENDOCRINE.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57326d5dbe3391523ff37c620e2d9041
https://doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a5152
https://doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a5152
Autor:
Fatima Ayub, Muhammad Hasib Khalil
Publikováno v:
Chest. 160:A957
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43362a726d109473480b4dc842af6d5a
https://doi.org/10.1016/j.chest.2021.07.891
https://doi.org/10.1016/j.chest.2021.07.891
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Natasha Y. Frank, Alexander P. Lin, J Ricardo McFaline-Figueroa, Andrew Bellinger, Vatche Tchekmedyian, Esteban Gershanik, David E. Cohen, Anne H. O’Donnell-Luria, Rebecca M. Lynch, Sai Merugumala, Frances Rohr, Susan E. Waisbren, Aaron D Goldberg, Bruce D. Levy, Tracey G. Simon, Gerard T. Berry, Martin A. Samuels
Publikováno v:
Molecular Genetics and Metabolism. 121:9-15
Acute idiopathic hyperammonemia in an adult patient is a life-threatening condition often resulting in a rapid progression to irreversible cerebral edema and death. While ammonia-scavenging therapies lower blood ammonia levels, in comparison, clearan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0836acc357031c391f606e352980f04c
https://doi.org/10.1016/j.ymgme.2017.03.003
https://doi.org/10.1016/j.ymgme.2017.03.003
Autor:
Ruža Grizelj, Nina Barišić, Mario Ćuk, Boris Filipović Grčić, Željka Mustapić, Dorotea Bartoniček, Ivan Lehman, Andrea Dasović Buljević, Ivo Barić, Danijela Petković Ramadža, Jasna Slaviček, Dorotea Ninković, Vesna Benjak, Ksenija Fumić, Vladimir Sarnavka, Jasminka Stipanović Kastelić
Publikováno v:
Klinische Padiatrie. 231(2)
Hyperammonemic encephalopathy in newborns with urea cycle disorders and certain organic acidurias can cause severe brain injury, coma and death. Standard therapy includes protein restriction, nitrogen-scavenging drugs, prevention of catabolism and he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fbb26c40295cb7a39abaf0edf01b52
https://pubmed.ncbi.nlm.nih.gov/30870873
https://pubmed.ncbi.nlm.nih.gov/30870873
Publikováno v:
Journal of Pediatric Neurology. :087-091
A female child with undiagnosed partial ornithine transcarbamylase deficiency suffered hyperammonemic coma after initiation of valproate for suspected seizures. Retrospec tive history and metabolic testing indicated ornithine tra nscarbamylase defici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ec3fd84a4df8e4097e5d690a8107a45
https://doi.org/10.3233/jpn-2010-0436
https://doi.org/10.3233/jpn-2010-0436