0000000000929525

AUTHOR

K. S. Kim

showing 2 related works from this author

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replace…

2004

Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an individual patient. This study aimed to develop a scoring system--the Mainz Severity Score Index (MSSI)--to measure the severity of AFD and to monitor the clinical course of the disease in response to ERT. Thirty-nine patients (24 males and 15 females) with AFD were assessed using the MSSI immediately before and 1 year after commencing agalsidase alfa ERT. Control data were obtained fro…

medicine.medical_specialtyAlpha-galactosidasebiologyVascular diseasebusiness.industryCase-control studyEnzyme replacement therapyDiseasemedicine.diseaseFabry diseaseEl NiñoInternal medicineSeverity of illnessGeneticsmedicinebiology.proteinbusinessGenetics (clinical)Clinical Genetics
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Use of gabapentin to reduce chronic neuropathic pain in Fabry disease.

2003

The effect of the anticonvulsant gabapentin on neuropathic pain was studied in six male patients with Fabry disease, aged 15-45 years. After 4 weeks of treatment, pain, as measured using the Brief Pain Inventory, was decreased compared with baseline. Treatment was generally well tolerated. This study indicates that gabapentin should be considered as a treatment option for the neuropathic pain of Fabry disease.

AdultMalemedicine.medical_specialtyDiabetic neuropathyGabapentinAdolescentCyclohexanecarboxylic Acidsmedicine.medical_treatmentAcetatesGeneticsmedicineHumansBrief Pain InventoryAminesGenetics (clinical)gamma-Aminobutyric AcidPain Measurementbusiness.industryVascular diseaseEnzyme replacement therapymedicine.diseaseFabry diseaseSurgeryAnticonvulsantTreatment OutcomeAnesthesiaNeuropathic painFabry DiseaseNeuralgiaAnticonvulsantsGabapentinbusinessmedicine.drugJournal of inherited metabolic disease
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