article Open AccessTop 10% cited

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

Journal of Medical Genetics · 2001 · Vol. 38(11) · pp. 750–760

K D MacDermot✉(Addenbrooke's Hospital)A Holmes(Addenbrooke's Hospital)A H Miners(Addenbrooke's Hospital)

Abstract

The majority of males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. The AFD register proved useful for the determination of baseline disease parameters in this cohort.

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Neurological diseases and metabolismMedicineCohortAngiokeratomaErectile dysfunctionDiseaseInternal medicineNeuropathic painFabry diseasePediatricsSurgery

MeSH terms

Fabry DiseaseCerebrovascular DisordersCross-Sectional StudiesGastrointestinal DiseasesGenotypeHearing Loss, SensorineuralHumansMaleNeuralgiaSurveys and QuestionnairesRegistriesSeverity of Illness IndexCohort StudiesSurvival AnalysisAge of Onset

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680

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Cited by

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females