Zobrazeno 1 - 4
of 4
pro vyhledávání: '"mitochondrial dna depletion syndrome type 7(hepatocerebral type)"'
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 329-334 (2024)
This study presents a case of a girl of three year and 4 month old with ataxia and severe sensorineural hearing loss for 2 years. In order to improve hearing, she was hospitalized in the PUMC Hospital. Genetic testing performed found compound heteroz
Externí odkaz:
https://doaj.org/article/47f1074dcd9a4689ae66726da306e342
Autor:
Neagu, Alexandra-Cristina, Budișteanu, Magdalena, Gheorghe, Dan-Cristian, Mocanu, Adela-Ioana, Mocanu, Horia
Publikováno v:
Medicina (1010660X); Sep2022, Vol. 58 Issue 9, p1252-N.PAG, 11p
Publikováno v:
Genomics & Genetics Weekly; 9/6/2024, p820-820, 1p
Autor:
Mohamed, Miski, Gardeitchik, Thatjana, Balasubramaniam, Shanti, Guerrero‐Castillo, Sergio, Dalloyaux, Daisy, Kraaij, Sanne, Venselaar, Hanka, Hoischen, Alexander, Urban, Zsolt, Brandt, Ulrich, Al‐Shawi, Raya, Simons, J. Paul, Frison, Michele, Ngu, Lock‐Hock, Callewaert, Bert, Spelbrink, Hans, Kallemeijn, Wouter W., Aerts, Johannes M. F. G., Waugh, Mark G., Morava, Eva
Publikováno v:
Journal of Inherited Metabolic Disease; Nov2020, Vol. 43 Issue 6, p1382-1391, 10p