| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Study on development of evidence for revision of guidelines for diseases for newborn mass screening |
| Name of principal investigator |
Toshiyuki Fukao |
| Name of institution of the principal investigator |
Gifu University Graduate School of Medicine |
| Target disease |
Diseases for newborn mass screening |
| Registry name |
Registry for diseases for newborn mass screening |
| Purpose of registry |
Survey of natural history, Epidemiological study, Genetic analysis study
|
| Overview of registry |
The current contents of the registry are the simple clinical course at the time when the disease was suspected at first, results of newborn mass screening, metabolism tests and genetic analysis results. Two-year clinical course and follow-up information will be added to these in the future.
|
| Research item |
Date of birth, Information about the current medical institutions of patients, Family history, Past medical history, History of present illness, History of treatment, Laboratory data, Clinical course
|
| Contact |
Hayashi |
| E-mail address |
fukao2●gifu-u.ac.jp |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
