First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia

Case series Patients: Male, 39-year-old (age at diagnosis) • Male, 62-year-old (age at diagnosis) Final Diagnosis: Fabry disease Symptoms: Corneal verticillata • kidney failure • neuropathy • proteinuria Medication: — Clinical Procedure: — Specialty: Genetics • Hematology • Laboratory Diagnostics •...

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Bibliographic Details
Published in:The American journal of case reports 2021-08, Vol.22, p.e932923-e932923
Main Authors: Tang, Andy Sing Ong, Wong, Qi Ying, Pao Lin Ting, Ingrid, Selvesten, Panting, Yeo, Siaw Tze, Chew, Lee Ping, Fam, Tem Lom, Tan, Clare Hui Hong
Format: Article
Language:English
Online Access:Get full text
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Summary:Case series Patients: Male, 39-year-old (age at diagnosis) • Male, 62-year-old (age at diagnosis) Final Diagnosis: Fabry disease Symptoms: Corneal verticillata • kidney failure • neuropathy • proteinuria Medication: — Clinical Procedure: — Specialty: Genetics • Hematology • Laboratory Diagnostics • Nephrology • Neurology • Ophthalmology
ISSN:1941-5923
1941-5923
DOI:10.12659/AJCR.932923