Real world reflections of the patient odyssey in alphamannosidosis: Insights and challenges in diagnosis from caregiver interviewsMOLECULAR GENETICS AND METABOLISMIF3.52025-02-010PRE
Clinical, genetic characteristics in Russian patients with Hurler syndromeMOLECULAR GENETICS AND METABOLISMIF3.52022-02-010PRE
Two siblings with attenuated MPS II form: Long term enzyme replacement therapyMOLECULAR GENETICS AND METABOLISMIF3.52021-02-011PREAI
Next generation sequencing is useful for the diagnosis of mucopolysaccharidosis type III in Russian patientsMOLECULAR GENETICS AND METABOLISMIF3.52020-02-010PREAI
Selective screening for nephropathic cystinosis among high-risk contingents of the children population in RussiaMOLECULAR GENETICS AND METABOLISMIF3.52020-02-012PREAI
Deletion of chromosomal region Xq28 cause of Hunter syndrome in a patient with mild clinical phenotypeMOLECULAR GENETICS AND METABOLISMIF3.52019-02-010PREAI
Molecular characteristics of patients with glycosaminoglycan storage disorders in RussiaCLINICA CHIMICA ACTAIF2.92014-09-0115PREAI
Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase GeneJOURNAL OF GENETICS AND GENOMICSIF7.12014-04-0110PREAI