Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
Dorota Wesół‐Kucharska(Children's Memorial Health Institute), Dariusz Rokicki(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Anna Bogdańska(Children's Memorial Health Institute), Ewa Ehmke vel Emczyńska‐Seliga(Children's Memorial Health Institute), Magdalena Pajdowska(Children's Memorial Health Institute), Magdalena Kaczor(Children's Memorial Health Institute), Dariusz Kozłowski(Children's Memorial Health Institute), Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute)
Cited by 7
Related Papers
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
|Journal of the American Society of Nephrology|2015|284
New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
|Journal of Translational Medicine|2016|233
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
|Genome Medicine|2022|215
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases
|Journal of Applied Genetics|2017|94
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
|European Journal of Human Genetics|2001|71