Concetta Aloi
Biographic Data
| ID | 7935786 |
|---|---|
| NAME | Concetta Aloi |
| GIVEN NAMES | Concetta |
| FAMILY NAME | Aloi |
| SIGNATURE | ALOI C |
| AFFILIATIONS | Istituto Giannina Gaslini |
| ORCID | 0000-0002-5937-0781 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2022 |
| H-INDEX | 0 |
An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus
Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was a c.1620_1622delGTG (p.Trp540del)/…
No prominent works on this page.
An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus
Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was a c.1620_1622delGTG (p.Trp540del)/…
Adenosine and Purinergic Signaling (1 work) · Age of onset (1 work) · Diabetes insipidus (1 work) · Diabetes mellitus (1 work) · Disease (1 work) · Endocrinology (1 work) · Endoplasmic Reticulum Stress and Disease (1 work) · Internal Medicine (1 work) · Medicine (1 work) · Pediatrics (1 work)