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Publications by Jeffrey P Castelli

Reduction of Podocyte Globotriaosylceramide Content in Adult Male Patients With Fabry Disease With Amenable GLA Mutations Following 6 Months of Migalastat Treatment

Journal of Medical Genetics
Genetics
2017English

Related publications

Progressive Podocyte Injury and Globotriaosylceramide (GL-3) Accumulation in Young Patients With Fabry Disease

Kidney International
Nephrology
2011English

Mosaicism of Podocyte Involvement Is Related to Podocyte Injury in Females With Fabry Disease

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

Mutations of the GLA Gene in Young Patients With Stroke

Stroke
CardiologyNeurologyCardiovascular MedicineAdvancedMedicineNeuroscienceSpecialized Nursing
2010English

A Classical Phenotype of Anderson-Fabry Disease in a Female Patient With Intronic Mutations of the GLA Gene: A Case Report

BMC Cardiovascular Disorders
Cardiovascular MedicineCardiology
2012English

Strong Increase of Leukocyte Apha‐galactosidase a Activity in Two Male Patients With Fabry Disease Following Oral Chaperone Therapy

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Prevalence of Fabry Disease and GLA C.196G>C Variant in Japanese Stroke Patients

Journal of Human Genetics
Genetics
2017English

Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase Beta Therapy in Patients With Fabry Disease

Journal of the American Society of Nephrology : JASN
MedicineNephrology
2007English

Clinical Presentation in Female Patients With Fabry Disease

Journal of Medical Genetics
Genetics
2003English

Epidemiological and Clinical Profile of Patients With Fabry Disease

Revista de Enfermagem UFPE on line
2019English

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