Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Familial hypokalemic periodic paralysis"'
Autor:
Ehsan Yousefi-Mazhin, Hossein Karballaei-Mirzahosseini, Hamidreza Sharifnia, Atabak Najafi, Farhad Najmeddin, Mahsa Tofighi-Mohammadi, Rezvan Hassanpour, Mojtaba Mojtahedzadeh
Publikováno v:
Archives of Anesthesia and Critical Care, Vol 10, Iss 4 (2024)
Familial hypokalemic periodic paralysis is a rare disorder that manifests manifests with the sudden onset of flaccid paralysis that is triggered by low levels of blood potassium, which can be caused by various factors such as, rest after intense exer
Externí odkaz:
https://doaj.org/article/e9e1f31481ef44f699c0310f5deb1118
Akademický článek
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Autor:
Tuğba Kontbay, İhsan Turan
Publikováno v:
JCRPE, Vol 13, Iss 3, Pp 362-366 (2021)
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in female
Externí odkaz:
https://doaj.org/article/da37225946284d69be98db491aa2996e
Autor:
Ihsan Turan, Tuğba Çetin
Publikováno v:
JCRPE, Vol 13, Iss 3, Pp 362-366 (2021)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia biallelic variants in CYP21A2. The classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females and hypocortisol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be31ce08e600587f237830bfcfcfe69a
https://doaj.org/article/da37225946284d69be98db491aa2996e
https://doaj.org/article/da37225946284d69be98db491aa2996e
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 10, Pp 1962-1964 (2020)
Clinical Case Reports, Vol 8, Iss 10, Pp 1962-1964 (2020)
It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6851dd05639896da9fcb15eef5b2467
http://europepmc.org/articles/PMC7562840
http://europepmc.org/articles/PMC7562840
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:1385-1389
BackgroundFamilial hypokalemic periodi9c paralysis (hypoKPP) is a rare autosomal dominant disorder characterized by episodic paralytic attacks caused by fall in blood potassium.CACNA1S,SCN4AorKCNJ2variants can cause hypoKPP.Case presentationWe invest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d65ca09e92fe9bbbd7970ba3e930008d
https://doi.org/10.1515/jpem-2019-0276
https://doi.org/10.1515/jpem-2019-0276
Autor:
Anna Frappaolo, Mary Vadnais
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 45:1608-1612
Familial hypokalemic periodic paralysis (f-hypoPP) is a rare neuromuscular disorder causing intermittent muscle paralysis. Pregnancy can exacerbate f-hypoPP, yet obstetric management is not well documented. We present a case of a nulliparous woman wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea46981aaff899a953e26b238e3bba26
https://doi.org/10.1111/jog.14015
https://doi.org/10.1111/jog.14015
Publikováno v:
Journal of the Endocrine Society
Background: Familial hypokalemic periodic paralysis (FHPP) is a rare condition characterized by episodes of painless muscle weakness associated with hypokalemia. It can be precipitated by heavy exercise and high carbohydrate meals. There have been ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0c19ac2353dda4cb337ac06287aabf5
https://doi.org/10.1210/jendso/bvab048.946
https://doi.org/10.1210/jendso/bvab048.946
Publikováno v:
Medical Journal of Dr. D.Y. Patil Vidyapeeth. 15:256
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a4352b4c46eb31dbc0b76e430bdab66
https://doi.org/10.4103/mjdrdypu.mjdrdypu_417_20
https://doi.org/10.4103/mjdrdypu.mjdrdypu_417_20
Autor:
Young-Lee Jung, Jae-Young Kang
Publikováno v:
World Journal of Clinical Cases
Rhabdomyolysis continues to appear with increasing frequency and represents a medical emergency requiring rapid appropriate treatment. One of the unusual causes of nontraumatic rhabdomyolysis is hypokalemic periodic paralysis without secondary causes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eabd8d202bdef3840d15e180849228d
http://europepmc.org/articles/PMC5314262
http://europepmc.org/articles/PMC5314262