Mihaela Spârchez
Biographic Data
| ID | 8262545 |
|---|---|
| NAME | Mihaela Spârchez |
| GIVEN NAMES | Mihaela |
| FAMILY NAME | Spârchez |
| SIGNATURE | SPÂRCHEZ M |
| AFFILIATIONS | Iuliu Hațieganu University of Medicine and Pharmacy |
| ORCID | 0000-0001-8620-9160 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2026 |
| LATEST PUBLICATION YEAR | 2026 |
| H-INDEX | 0 |
ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children
Inherited distal renal tubular acidosis (dRTA) is a rare but clinically significant disorder of renal acid-base regulation that frequently presents in infancy or early childhood. Among the genetic causes of autosomal recessive dRTA, mutations in the ATP6V1B1 gene are particularly important due to their association with early-onset disease and sensorineural hearing loss. Failure to recognize and treat this condition promptly can result in growth r…
No prominent works on this page.
ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children
Inherited distal renal tubular acidosis (dRTA) is a rare but clinically significant disorder of renal acid-base regulation that frequently presents in infancy or early childhood. Among the genetic causes of autosomal recessive dRTA, mutations in the ATP6V1B1 gene are particularly important due to their association with early-onset disease and sensorineural hearing loss. Failure to recognize and treat this condition promptly can result in growth r…
Amino Acid Enzymes and Metabolism (1 work) · Biomedical Research and Pathophysiology (1 work) · Disease (1 work) · Distal renal tubular acidosis (1 work) · Hearing loss (1 work) · Inherited disease (1 work) · Ion Transport and Channel Regulation (1 work) · Kidney disease (1 work) · Renal tubular acidosis (1 work) · Sensorineural deafness (1 work)