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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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Detalles Bibliográficos
Autores principales: Tang, Andy Sing Ong, Wong, Qi Ying, Ting, Ingrid Pao Lin, Selvesten, Panting, Yeo, Siaw Tze, Chew, Lee Ping, Fam, Tem Lom, Tan, Clare Hui Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8351246/
https://www.ncbi.nlm.nih.gov/pubmed/34354036
http://dx.doi.org/10.12659/AJCR.932923