2018
Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics
Puri R, Kapoor S, Kishnani P, Dalal A, Gupta N, Muranjan M, Phadke S, Sachdeva A, Verma I, Mistry P, Gaucher Disease Task Force. Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatrics 2018, 55: 143-153. PMID: 29503270, DOI: 10.1007/s13312-018-1249-9.Peer-Reviewed Original ResearchConceptsIndian AcademyGaucher diseaseIrreversible complicationsType 3 Gaucher diseaseOptimal management guidelinesSevere irreversible complicationsInitiation of therapyProgressive neurological symptomsManagement of patientsPrevention of recurrenceBlood-brain barrierStandard of careEnzyme replacement therapyHealth care systemMedical GeneticsLysosomal storage disorderDiagnostic delayNeurological symptomsTask ForceClinical manifestationsReplacement therapyPatient populationIndian patientsBrain barrierEarly initiation
2009
Chapter 42 Wilson Disease and the Kidney
Schilsky M, Mistry P. Chapter 42 Wilson Disease and the Kidney. 2009, 709-713. DOI: 10.1016/b978-0-12-449851-8.00042-5.Peer-Reviewed Original ResearchLiver failureWilson's diseaseRenal injuryLower urine sodium excretionD-penicillamineDevelopment of oliguriaChronic liver failureUrine sodium excretionInitiation of therapyAcute liver failureYears of therapyCopper-chelating drugHepatic copper accumulationHepatorenal syndromeBiliary copper excretionLupus nephritisRenal dysfunctionSodium excretionTubular injuryRenal toxicityUrinary excretionRenal clearanceTubular defectsUrinary sedimentHigh incidence