{"doi":"10.4103/aian.aian_1009_20","title":"Lysosomal Storage Disorders","abstract":"<jats:sec>\n            <jats:title>Introduction:</jats:title>\n            <jats:p>Lysosomal storage disorders (LSDs) are a heterogeneous group of large molecule inborn errors of metabolism, rather commonly seen by clinician.</jats:p>\n          </jats:sec>\n          <jats:sec>\n            <jats:title>Objectives:</jats:title>\n            <jats:p>This study aims to highlight the more common type of LSDs, their frequency, clinical spectrum and outcome from Rare disease centre in Rajasthan.</jats:p>\n          </jats:sec>\n          <jats:sec>\n            <jats:title>Methods:</jats:title>\n            <jats:p>The retrospective data were collected including clinical profile, investigations, screening test and enzyme analysis results. All outcomes were recorded from follow-up clinic.</jats:p>\n          </jats:sec>\n          <jats:sec>\n            <jats:title>Results:</jats:title>\n            <jats:p>This cohort comprised 65 children with different type of LSDs including 54 males and 11 females. The average age of presentation of the LSD patients was 3.5 years (range 6 months to 13 years). Gaucher disease was the most commonly found LSD (46.1%) followed by mucopolysaccharidosis (35.3%). Common presentations among GD patients were anemia, thrombocytopenia, and abdominal distension due to splenohepatomegaly/hepatomegaly. Among MPS Disorder, MPS type 2 (Hunter syndrome) was the most common (39.1%), followed by MPS type 1(Hurler syndrome) (30%) and MPS type IVA (Morquio syndrome) (17.3%). Non GD non MPS group comprised most commonly of GM1 gangliosidosis followed by pompe disease, Metachromatic Leucodystrophy, Mucolipidosis type II (I cell disease), and Sandhoff disease.</jats:p>\n          </jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:</jats:title>\n            <jats:p>LSDs comprises an important group of genetic metabolic disorders. Among these GD are the most common, followed by MPS.</jats:p>\n          </jats:sec>","journal":"Annals of Indian Academy of Neurology","year":2021,"id":14448,"datarank":0.43572392506157476,"base_score":2.1972245773362196,"endowment":2.1972245773362196,"self_citation_contribution":0.32958368660043297,"citation_network_contribution":0.10614023846114179,"self_endowment_contribution":0.32958368660043297,"citer_contribution":0.10614023846114179,"corpus_percentile":null,"corpus_rank":null,"citation_count":8,"citer_count":8,"citers_with_citation_signal":4,"citers_with_endowment":4,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":114057,"name":"Ashok Gupta","orcid":null,"position":1,"is_corresponding":false},{"id":114056,"name":"Manisha Goyal","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":2.1972245773362196,"endowment":2.1972245773362196,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"35002125","pmcid":"PMC8680872","openalex_id":"https://openalex.org/W4205207796","authors":[],"funders":[],"total_grants":0,"fwci":0.7275,"citation_percentile":0.70607867,"influential_citations":2,"citation_trend":[{"year":2022,"count":3},{"year":2023,"count":2},{"year":2024,"count":1},{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"gold","license":"cc-by-nc-sa","oa_locations":[{"url":"https://doi.org/10.4103/aian.aian_1009_20","host_type":"journal"},{"url":"https://doi.org/10.4103/aian.aian_1009_20","host_type":"GOLD"},{"url":"https://doi.org/10.4103/aian.aian_1009_20","host_type":"publisher"},{"url":"https://journals.lww.com/10.4103/aian.AIAN_1009_20","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/35002125","host_type":"repository"},{"url":"https://doaj.org/article/c4210754c8a14133b1b9c52671aaf440","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8680872","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC8680872","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC8680872?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Lysosomal Storage Disorders Research","Calcium signaling and nucleotide metabolism","Biomedical Research and Pathophysiology","Medicine"],"mesh_terms":[],"keywords":["Medicine","Gangliosidosis","Sandhoff disease","Metachromatic leukodystrophy","Mucolipidosis","Krabbe disease","Pediatrics","Fabry disease","Lysosomal storage disease","Mucopolysaccharidosis","Enzyme replacement therapy","Hurler syndrome","Mucopolysaccharidosis I","Lysosomal storage disorders","Cohort","Disease","Internal medicine","Leukodystrophy","Pathology","Gaucher Disease","Splenohepatomegaly","Mucopolysachharidosis"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-01T10:08:37.335902Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}