https://rddc.tsinghua-gd.org/news 2026-05-20T05:01:39Z 0.8 daily https://rddc.tsinghua-gd.org/news/genetic 2026-05-20T05:01:39Z 0.8 daily https://rddc.tsinghua-gd.org/news/frontier 2026-05-20T05:01:39Z 0.8 daily https://rddc.tsinghua-gd.org/news/insight 2026-05-20T05:01:39Z 0.8 daily https://rddc.tsinghua-gd.org/news/case 2026-05-20T05:01:39Z 0.8 daily https://rddc.tsinghua-gd.org/news/case/rddc-analyzes-marveld2-splicing-variant-hearing-loss 2025-11-05 10:34:22 0.8 daily A Deep Dive into a MARVELD2 Splicing Variant in Hereditary Hearing Loss with the RDDC Tool 2025-10-20 https://rddc.tsinghua-gd.org/news/case/rddc-tcf4-3utr-variant-pths-splicing 2025-11-05 10:34:22 0.8 daily RDDC Tool Decodes TCF4 3'UTR Variant in PTHS 2025-10-23 https://rddc.tsinghua-gd.org/news/genetic/hif1a-hypoxia-signaling-therapeutics 2025-11-05 10:34:22 0.8 daily HIF-1α Hypoxia-Inducible Factor: From Nobel Prize Mechanism to Drug Research and Clinical Applications 2025-10-08 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-comparative-study-of-intravenous-efgartigimod-and-ivig-in-gbs-treatment 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Comparative Study of Intravenous Efgartigimod and IVIg in GBS Treatment 2025-04-05 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-european-expert-consensus-highlights-psychosocial-vulnerability-in-rare-disease-patients 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | European expert consensus highlights psychosocial vulnerability in rare disease patients 2023-10-01 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-development-of-a-managed-entry-agreement-matrix-to-address-reimbursement-challenges-for-orphan-medicinal-products 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Development of a Managed Entry Agreement Matrix to Address Reimbursement Challenges for Orphan Medicinal Products 2025-10-30 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-eu-should-adopt-us-orphan-drug-incentives-to-enhance-competitiveness 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | EU should adopt US orphan drug incentives to enhance competitiveness 2025-03-20 https://rddc.tsinghua-gd.org/news/genetic/sirt3-psoriasis-xbp1s-tlr7-8-axis 2025-11-05 10:34:22 0.8 daily SIRT3 Deacetylation and Psoriasis: Precise Inflammatory Regulation from Mitochondria to Nucleus 2025-10-15 https://rddc.tsinghua-gd.org/news/case/rddc-abca4-stargardt-disease-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of ABCA4 Gene Variants, Advancing Precision Diagnosis of Stargardt Disease 2025-09-01 https://rddc.tsinghua-gd.org/news/case/rddc-cacna1a-hemiplegic-migraine-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of CACNA1A Gene Variants, Advancing Precision Diagnosis of Hemiplegic Migraine 2025-09-02 https://rddc.tsinghua-gd.org/news/case/rddc-col4a5-alport-syndrome-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of COL4A5 Gene Variants, Advancing Precision Diagnosis of Alport Syndrome 2025-09-03 https://rddc.tsinghua-gd.org/news/case/rddc-dmd-duchenne-muscular-dystrophy-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of DMD Gene Variants, Advancing Precision Diagnosis of Duchenne Muscular Dystrophy 2025-09-04 https://rddc.tsinghua-gd.org/news/case/rddc-fbn1-marfan-syndrome-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of FBN1 Gene Variants, Advancing Precision Diagnosis of Marfan Syndrome 2025-09-05 https://rddc.tsinghua-gd.org/news/case/rddc-gjb2-hereditary-deafness-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of GJB2 Gene Variants, Advancing Precision Diagnosis of Hereditary Deafness 2025-09-06 https://rddc.tsinghua-gd.org/news/case/rddc-hexa-tay-sachs-disease-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of HEXA Gene Variants, Advancing Precision Diagnosis of Tay-Sachs Disease 2025-09-07 https://rddc.tsinghua-gd.org/news/case/rddc-ldlr-familial-hypercholesterolemia-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of LDLR Gene Variants, Advancing Precision Diagnosis of Familial Hypercholesterolemia 2025-09-08 https://rddc.tsinghua-gd.org/news/case/rddc-col4a3-splicing-variant-alport-syndrome 2025-11-05 10:34:22 0.8 daily Case Study: RDDC-RNA Splicer's Prediction Perfectly Validated by Minigene Assay 2025-09-09 https://rddc.tsinghua-gd.org/news/case/rddc-brca1-hereditary-breast-cancer-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of BRCA1 Gene Variants, Advancing Precision Diagnosis of Hereditary Breast Cancer 2025-09-10 https://rddc.tsinghua-gd.org/news/case/rddc-cftr-cystic-fibrosis-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of CFTR Gene Variants, Advancing Precision Diagnosis of Cystic Fibrosis 2025-09-11 https://rddc.tsinghua-gd.org/news/case/rddc-htt-huntington-disease-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of HTT Gene Variants, Advancing Precision Diagnosis of Huntington's Disease 2025-09-12 https://rddc.tsinghua-gd.org/news/case/rddc-nf1-neurofibromatosis-type1-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of NF1 Gene Variants, Advancing Precision Diagnosis of Neurofibromatosis Type 1 2025-09-13 https://rddc.tsinghua-gd.org/news/case/rddc-pkd1-polycystic-kidney-disease-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of PKD1 Gene Variants, Advancing Precision Diagnosis of Polycystic Kidney Disease 2025-09-14 https://rddc.tsinghua-gd.org/news/case/rddc-scn1a-dravet-syndrome-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of SCN1A Gene Variants, Advancing Precision Diagnosis of Dravet Syndrome 2025-09-15 https://rddc.tsinghua-gd.org/news/case/rddc-tsc1-tuberous-sclerosis-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of TSC1 Gene Variants, Advancing Precision Diagnosis of Tuberous Sclerosis Complex 2025-09-16 https://rddc.tsinghua-gd.org/news/case/rddc-vhl-von-hippel-lindau-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of VHL Gene Variants, Advancing Precision Diagnosis of von Hippel-Lindau Disease 2025-09-17 https://rddc.tsinghua-gd.org/news/case/rddc-wt1-wilms-tumor-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of WT1 Gene Variants, Advancing Precision Diagnosis of Wilms Tumor 2025-09-18 https://rddc.tsinghua-gd.org/news/case/rddc-zfhx3-atrial-fibrillation-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of ZFHX3 Gene Variants, Advancing Precision Diagnosis of Atrial Fibrillation 2025-09-19 https://rddc.tsinghua-gd.org/news/case/rddc-actn4-fsgs-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of ACTN4 Gene Variants, Advancing Precision Diagnosis of Focal Segmental Glomerulosclerosis 2025-09-20 https://rddc.tsinghua-gd.org/news/case/rddc-best1-best-disease-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of BEST1 Gene Variants, Advancing Precision Diagnosis of Best Disease 2025-09-21 https://rddc.tsinghua-gd.org/news/case/rddc-cdkl5-cdd-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Aids Pathogenicity Assessment of CDKL5 Gene Variants, Advancing Precision Diagnosis of CDKL5 Deficiency Disorder 2025-09-22 https://rddc.tsinghua-gd.org/news/case/rddc-abcc8-splicing-variant-chi 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts ABCC8 Splicing Variant Pathogenicity 2025-09-23 https://rddc.tsinghua-gd.org/news/case/rddc-fancg-splicing-variant-fa 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts FANCG Splicing Variant Pathogenicity 2025-09-24 https://rddc.tsinghua-gd.org/news/case/rddc-kcnq1-splicing-variant-lqts 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts KCNQ1 Splicing Variant Pathogenicity 2025-09-25 https://rddc.tsinghua-gd.org/news/case/rddc-atp8b1-intrahepatic-cholestasis-diagnosis 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Pathogenicity Predictor Aids Diagnosis of Unexplained Intrahepatic Cholestasis 2025-09-26 https://rddc.tsinghua-gd.org/news/case/rddc-satb2-splicing-variant-glass-syndrome 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicing Prediction Model Aids GLASS Syndrome Diagnosis 2025-09-27 https://rddc.tsinghua-gd.org/news/case/rddc-trip11-splicing-variant-acgia 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicing Prediction Model Aids Achondrogenesis Type IA Diagnosis 2025-09-28 https://rddc.tsinghua-gd.org/news/case/rddc-lrrk2-splicing-variant-eopd-complex 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Helps Elucidate Complex Genetic Background of Early-Onset Parkinson's Disease 2025-09-29 https://rddc.tsinghua-gd.org/news/case/rddc-srp72-splicing-variant-bmfs1-pathogenicity 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Aids Pathogenicity Assessment of Novel SRP72 Splicing Variant 2025-09-30 https://rddc.tsinghua-gd.org/news/case/rddc-fga-splicing-variant-cfds 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts FGA Splicing Variant Pathogenicity 2025-10-01 https://rddc.tsinghua-gd.org/news/case/rddc-gata4-splicing-variant-chd 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts GATA4 Splicing Variant Pathogenicity 2025-10-02 https://rddc.tsinghua-gd.org/news/case/rddc-rps19-splicing-variant-dba 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts RPS19 Splicing Variant Pathogenicity 2025-10-03 https://rddc.tsinghua-gd.org/news/case/rddc-gpi-splicing-variant-deficiency 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts GPI Splicing Variant Pathogenicity 2025-10-04 https://rddc.tsinghua-gd.org/news/case/rddc-pkd1-splicing-variant-adpkd 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts PKD1 Splicing Variant Pathogenicity 2025-10-05 https://rddc.tsinghua-gd.org/news/case/rddc-gtpbp3-splicing-variant-mitochondrial 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts GTPBP3 Splicing Variant Pathogenicity 2025-10-06 https://rddc.tsinghua-gd.org/news/case/rddc-tsc2-intronic-variant-tsc 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts TSC2 Intronic Variant Pathogenicity 2025-10-07 https://rddc.tsinghua-gd.org/news/case/rddc-tyr-splicing-variant-albinism 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Aids Albinism Diagnosis 2025-10-08 https://rddc.tsinghua-gd.org/news/case/rddc-sptb-splicing-variant-hs 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts SPTB Splicing Variant Pathogenicity 2025-10-09 https://rddc.tsinghua-gd.org/news/case/rddc-cftr-synonymous-vus-pgt-m 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Decodes Synonymous VUS for PGT-M 2025-10-10 https://rddc.tsinghua-gd.org/news/case/rddc-gene-database-schd-prioritization 2025-11-05 10:34:22 0.8 daily Case Study: RDDC Gene Database Aids sCHD Candidate Gene Prioritization 2025-10-11 https://rddc.tsinghua-gd.org/news/case/rddc-col4a2-splicing-variant-fetal-hemorrhage 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Predicts COL4A2 Splicing Variant in Fetal Brain Hemorrhage 2025-10-12 https://rddc.tsinghua-gd.org/news/case/rddc-female-infertility-splicing-variants 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts Female Infertility-Related Splicing Variants 2025-10-13 https://rddc.tsinghua-gd.org/news/case/rddc-homocystinemia-splicing-variants 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts Homocystinemia Splicing Variants 2025-10-14 https://rddc.tsinghua-gd.org/news/case/rddc-prenatal-arthrogryposis-splicing-variants 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts Prenatal Arthrogryposis Splicing Variants 2025-10-15 https://rddc.tsinghua-gd.org/news/case/rddc-smn1-splicing-variants-sma 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts SMN1 Splicing Variants in SMA 2025-10-16 https://rddc.tsinghua-gd.org/news/case/rddc-lhcgr-splicing-variants-46xy-dsd 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts LHCGR Splicing Variants in 46,XY DSD 2025-10-17 https://rddc.tsinghua-gd.org/news/case/rddc-col4a5-intronic-variants-x-linked-alport 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts COL4A5 Intronic Variants in X-Linked Alport Syndrome 2025-10-18 https://rddc.tsinghua-gd.org/news/case/rddc-cplane1-missense-variants-joubert-syndrome 2025-11-05 10:34:22 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts CPLANE1 Missense Variants in Joubert Syndrome 2025-10-19 https://rddc.tsinghua-gd.org/news/case/rddc-dct-splicing-variants-oca8 2026-05-20T05:01:39Z 0.8 daily Case Study: RDDC RNA Splicer Accurately Predicts DCT Splicing Variants in Oculo-Cutaneous Albinism 8 2025-10-20 https://rddc.tsinghua-gd.org/news/insight/pku-sephience-gs1168-breakthrough 2026-05-20T05:01:39Z 0.8 daily PKU Treatment Breakthrough: Mechanism Analysis from Cofactor Replacement (Sephience) to Gene Silencing (GS1168) 2025-09-30 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-treatment-and-recurrence-analysis-of-peripheral-jaw-cysts 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Treatment and Recurrence Analysis of Peripheral Jaw Cysts 2025-11-01 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-analysis-of-medical-expenses-and-care-pathways-for-pompe-patients-receiving-enzyme-replacement-therapy 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Analysis of Medical Expenses and Care Pathways for Pompe Patients Receiving Enzyme Replacement Therapy 2025-01-01 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-advances-of-ipsc-derived-retinal-organoids-in-inherited-retinal-disease-research 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Advances of iPSC-Derived Retinal Organoids in Inherited Retinal Disease Research 2025-11-02 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-artificial-intelligence-applications-in-nf1-associated-gliomas 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Artificial Intelligence Applications in NF1-Associated Gliomas 2025-11-03 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-long-ruilin-et-al-safety-and-efficacy-of-laronidase-in-chinese-mps-i-patients-a-phase-iv-single-arm-open-label-multicenter-study 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Long Ruilin et al. Safety and efficacy of Laronidase in Chinese MPS I patients: A phase IV single-arm open-label multicenter study 2025-04-05 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-neurodevelopmental-phenotypes-and-therapeutic-implications-of-grin2b-variants 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Neurodevelopmental Phenotypes and Therapeutic Implications of GRIN2B Variants https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-clinical-presentation-genetic-mutations-and-transplantation-outcomes-of-primary-hyperoxaluria-in-the-saudi-pediatric-population 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Clinical Presentation, Genetic Mutations, and Transplantation Outcomes of Primary Hyperoxaluria in the Saudi Pediatric Population 2023-10-01 https://rddc.tsinghua-gd.org/news/insight/hemophilia-gene-therapy-advances 2025-11-05 10:34:22 0.8 daily Hemophilia: A Beacon of Hope from Gene Mutation to Gene Therapy 2025-11-01 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-nationwide-epidemiological-analysis-of-achondroplasia-and-hypochondroplasia-in-france 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Nationwide Epidemiological Analysis of Achondroplasia and Hypochondroplasia in France 2025-11-05 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-update-on-french-national-guidelines-for-gaucher-disease-diagnosis-and-treatment 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Update on French National Guidelines for Gaucher Disease Diagnosis and Treatment 2025-10-01 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-update-on-french-gaucher-disease-diagnosis-and-treatment-guidelines 2025-11-05 10:34:22 0.8 daily Orphanet Journal of Rare Diseases | Update on French Gaucher Disease Diagnosis and Treatment Guidelines 2025-04-01 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-application-of-ensemble-machine-learning-based-radiomics-analysis-in-differential-diagnosis-of-light-chain-cardiac-amyloidosis-versus-hypertrophic-cardiomyopathy 2026-05-20T05:01:39Z 0.8 daily Orphanet Journal of Rare Diseases | Application of ensemble machine learning-based radiomics analysis in differential diagnosis of light chain cardiac amyloidosis versus hypertrophic cardiomyopathy 2025-03-20 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-bibliometric-and-knowledge-graph-analysis-of-gene-therapy-for-sickle-cell-disease-hemophilia-and-thalassemia 2026-05-20T05:01:39Z 0.8 daily Orphanet Journal of Rare Diseases | Bibliometric and Knowledge Graph Analysis of Gene Therapy for Sickle Cell Disease, Hemophilia, and Thalassemia 2025-04-05 https://rddc.tsinghua-gd.org/news/genetic/diabetes-obesity-shared-mechanisms-2025 2025-11-07 15:15:03 0.8 daily Why Do Diabetes and Obesity Often Co-occur? A Panoramic Analysis from Shared Genes to Metabolic Pathways(2025 Edition) 2025-11-06 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-impact-of-cardiac-and-renal-involvement-patterns-on-arrhythmias-and-cardiovascular-outcomes-in-fabry-disease-patients 2026-05-20T05:01:39Z 0.8 daily Orphanet Journal of Rare Diseases | Impact of Cardiac and Renal Involvement Patterns on Arrhythmias and Cardiovascular Outcomes in Fabry Disease Patients 2023-10-05 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-preliminary-study-on-flna-gene-variants-and-emphysema-frequency-and-characteristics-in-adults 2026-05-20T05:01:39Z 0.8 daily Orphanet Journal of Rare Diseases | Preliminary Study on FLNA Gene Variants and Emphysema Frequency and Characteristics in Adults 2023-10-01 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-french-guidelines-for-the-management-of-nonadvanced-mastocytosis-in-adults 2026-05-20T05:01:39Z 0.8 daily Orphanet Journal of Rare Diseases | French Guidelines for the Management of Nonadvanced Mastocytosis in Adults 2025-11-07 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-research-advances-in-enzyme-replacement-and-gene-therapies-for-mps-iva 2026-05-20T05:01:39Z 0.8 daily Orphanet Journal of Rare Diseases | Research Advances in Enzyme Replacement and Gene Therapies for MPS IVA 2025-04-05 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-alterations-in-sphingolipid-metabolism-in-gaucher-disease 2025-11-08 09:18:25 0.8 daily Orphanet Journal of Rare Diseases | Alterations in Sphingolipid Metabolism in Gaucher Disease 2025-04-05 https://rddc.tsinghua-gd.org/news/frontier/orphanet-journal-of-rare-diseases-challenges-and-opportunities-of-genetic-testing-and-counseling-for-mucopolysaccharidosis-type-ii-in-kenya 2025-11-10 08:31:24 0.8 daily Orphanet Journal of Rare Diseases | Challenges and opportunities of genetic testing and 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