Japanese Patients With Fabry Disease Predominantly Showing Cardiac and Neurological Manifestation With Novel Missense Mutation: R220P

Journal of Cardiology - Japan
doi 10.1016/j.jjcc.2013.02.012
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

Novel Α-Galactosidase a Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease

International Heart Journal
MedicineCardiovascular MedicineCardiology
2016English

TRPM4 Mutation in Patients With Ventricular Noncompaction and Cardiac Conduction Disease

Circulation. Genomic and precision medicine
GeneticsCardiovascular MedicineCardiology
2018English

AB050. Later Onset Fabry Disease, Cardiac Damage Progress in Silence-Experience With a Highly Prevalent Mutation

Annals of Translational Medicine
Medicine
2017English

Cognitive Impairment and Fabry Disease: A Case Report With Mutation S126G

Neuropsychological Trends
Molecular NeurosciencePhysiological PsychologyNeuropsychologyCellular
2016English

X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation

Endocrine Abstracts
2015English

Epidemiological and Clinical Profile of Patients With Fabry Disease

Revista de Enfermagem UFPE on line
2019English

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Reproductive Sciences
GynecologyObstetrics
2016English

Clinical Presentation in Female Patients With Fabry Disease

Journal of Medical Genetics
Genetics
2003English

Two Novel Missense Mutations in the Myostatin Gene Identified in Japanese Patients With Duchenne Muscular Dystrophy

BMC Medical Genetics
Genetics
2007English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy