Zobrazeno 1 - 10
of 173
pro vyhledávání: '"Autosomal recessive disease"'
Autor:
Mahtab Ordooei, Razieh Fallah, Maryam Saeida-Ardekani, Fahimeh Soheilipour, Mahdieh Yavari, Mahta Mazaheri
Publikováno v:
Case Reports in Clinical Practice, Vol 9, Iss 1 (2024)
The deficiency of isovaleryl-CoA dehydrogenase leads to an inborn recessive error of leucine metabolism named isovaleric acidemia (IVA). Its presentation may be either in the neonatal period as an acute episode of metabolic acidosis or later as a “
Externí odkaz:
https://doaj.org/article/326cea203bb64544967b40b7b6e484b6
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Deficiency of adipose triglyceride lipase (ATGL) due to mutation in PNPLA2 causes neutral lipid storage disease with myopathy (NLSDM), an autosomal recessive disorder (MIM: #610717). NLSDM patients are mainly affected by progressive myopathy, cardiom
Externí odkaz:
https://doaj.org/article/3e5ffaaa3bc24159bec0137b7656a965
Autor:
Valentina Magliocca, Angela Lanciotti, Elena Ambrosini, Lorena Travaglini, Veronica D’Ezio, Valentina D’Oria, Stefania Petrini, Michela Catteruccia, Keith Massey, Marco Tartaglia, Enrico Bertini, Tiziana Persichini, Claudia Compagnucci
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
IntroductionRiboflavin transporter deficiency type 2 (RTD2) is a rare neurodegenerative autosomal recessive disease caused by mutations in the SLC52A2 gene encoding the riboflavin transporters, RFVT2. Riboflavin (Rf) is the precursor of FAD (flavin a
Externí odkaz:
https://doaj.org/article/92b000ce458745bdb05cc0b0d313f8ab
Publikováno v:
Dubai Medical Journal, Pp 1-4 (2022)
Bartsocas-Papas syndrome (BPS) is a rare form of autosomal recessive disease, which is often severe and most of the time lethal. Only a few cases have been reported in the literature, so far mainly from the Mediterranean ancestry. We are describing h
Externí odkaz:
https://doaj.org/article/12dedfc7ec4c4d76b7cc24611f401547
Publikováno v:
Cellular, Molecular and Biomedical Reports, Vol 1, Iss 4, Pp 181-190 (2021)
Although liver biopsy is a gold standard for evaluating liver fibrosis, due to the invasive nature of the biopsy and complications related to it in thalassemia major patients, it is important to use new, valid and non-invasive methods to estimate the
Externí odkaz:
https://doaj.org/article/5d0def3f163d4585822c3e22393dcdbb
Publikováno v:
Journal of Ardabil University of Medical Sciences, Vol 21, Iss 1, Pp 123-129 (2021)
Pulmonary alveolar microlithiasis is a rare autosomal recessive disease characterized by the formation of calcium phosphate deposition in the alveoli. Although the disease most often occurs in children, most patients with the disease are diagnosed in
Externí odkaz:
https://doaj.org/article/fdce67456adf4e2780194f6b70799ff9
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundDue to the affordability of whole-genome sequencing, the genetic association design can now address rare diseases. However, some common statistical association methods only consider homozygosity mapping and need several criteria, such as sl
Externí odkaz:
https://doaj.org/article/45e89df4a2c7400a93fedccc76383737
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