Zobrazeno 1 - 10
of 42
pro vyhledávání: '"intracerebral calcifications"'
Autor:
Rajkumar Kundavaram, Saswat Ranjan Raul, Vishnu Dev, Shruti Namdeo, Priya Gogia, Kirtisudha Mishra, Girish Chandra Bhatt
Publikováno v:
Indian Pediatrics Case Reports, Vol 4, Iss 4, Pp 252-255 (2024)
Background: Carbonic anhydrase II (CA II) deficiency is a rare autosomal recessive genetic disorder presenting with the characteristic triad of osteopetrosis, renal tubular acidosis (RTA), and intracerebral calcifications. However, the spectrum of mu
Externí odkaz:
https://doaj.org/article/913198e46b85407c9673e7311c85c134
Publikováno v:
Radiology Case Reports, Vol 17, Iss 3, Pp 847-851 (2022)
Carbonic anhydrase II deficiency is a rare autosomal recessive disorder with a classical triad of renal tubular acidosis, intracerebral calcifications and osteopetrosis. We present a case of a 6-year and 4-months old male patient presented to our ped
Externí odkaz:
https://doaj.org/article/eb4f926b212148a387a9b7bf7cf5b159
Publikováno v:
Libyan International Medical University Journal, Vol 5, Iss 2, Pp 59-64 (2020)
Background: Intracranial calcification (ICC) is frequently seen in noncontrast computed tomography (NCCT) in both adult and pediatric populations. Aim: We performed this study in order to illustrate and provide data regarding the CT pattern of ICC am
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5840367d61935a65050f019c34dd8b2
https://doi.org/10.4103/liuj.liuj_30_20
https://doi.org/10.4103/liuj.liuj_30_20
Akademický článek
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Akademický článek
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Autor:
Marie Hully, Sabine Sarnacki, Veronique Minard-Colin, Myriam Oufadem, Christine Bole-Feysot, Nathalie Boddaert, Patrick Nitschké, Christopher T. Gordon, Thomas Blauwblomme, Jeanne Amiel, Anne Guimier
Publikováno v:
American Journal of Medical Genetics Part A.
The spectrum of clinical consequences of variants in the Platelet derived growth factor receptor beta (PDGFRB) gene is wide. Missense variants leading to variable loss of signal transduction in vitro have been reported in the idiopathic basal ganglia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0665123bcf1061b5626b9d05f9e581a
https://doi.org/10.1002/ajmg.a.61151
https://doi.org/10.1002/ajmg.a.61151
Autor:
S. Derrou, Youssef Bamou, L. Balouch, Soumaya Safi, Ghizlane Zoulati, Fatima El Boukhrissi, I. En-Nafaa, H. Ouleghzal
Publikováno v:
The Pan African Medical Journal, Vol 26, Iss 2 (2017)
Le syndrome de Fahr est une entité anatomoclinique rare dont la principale étiologie est l'hypoparathyroïdie primitive ou postopératoire. Il est caractérisé par des calcifications intracérébrales bilatérales et symétriques, localisées dans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c54aad2fcea65a1a47de7e74d9d9d6
https://doi.org/10.11604/pamj.2017.26.2.10689
https://doi.org/10.11604/pamj.2017.26.2.10689
Autor:
Fatima, El Boukhrissi, Ghizlane, Zoulati, Issam, En-Nafaa, Hassan, Ouleghzal, Sara, Derrou, Soumaya, Safi, Youssef, Bamou, Lhoussine, Balouch
Publikováno v:
The Pan African Medical Journal
Le syndrome de Fahr est une entité anatomoclinique rare dont la principale étiologie est l'hypoparathyroïdie primitive ou postopératoire. Il est caractérisé par des calcifications intracérébrales bilatérales et symétriques, localisées dans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab0c9244332b968645577cf135267c69
https://pubmed.ncbi.nlm.nih.gov/28450981
https://pubmed.ncbi.nlm.nih.gov/28450981
Autor:
Prasanth. S.R.
Publikováno v:
Journal of Medical Science And clinical Research.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65f225ad85e2abfbcddf14281e08d0a7
https://doi.org/10.18535/jmscr/v4i4.06
https://doi.org/10.18535/jmscr/v4i4.06
Publikováno v:
Northern Clinics of Istanbul
Fahr’s syndrome is a neuropsychiatric syndrome characterized by symmetrical and bilateral intracerebral calcifications located in the basal ganglia and usually associated with a phosphorus and calcium metabolism disorder. Clinical manifestations of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8877a1420527e1e005e3f31fced71e
https://doi.org/10.14744/nci.2015.47966
https://doi.org/10.14744/nci.2015.47966