Hypoxanthine‐guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations
Agnieszka Jurecka(Children's Memorial Health Institute), Ewa Pronicka(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Zita Krūmiņa(Children's Clinical University Hospital), Jolanta Sykut‐Cegielska, Ewa Popowska(Instytut Matki i Dziecka), Jolanta Kubalska(Institute of Psychiatry and Neurology), Anna Tylki‐Szymańska(Children's Memorial Health Institute)
Cited by 10
Related Papers
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
|Nature Genetics|1995|1.1k
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
|Orphanet Journal of Rare Diseases|2015|345
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
|Cell|2010|315
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
|Blood|2011|288
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
|New England Journal of Medicine|2014|287