Dr. Usha Dave from MILS India came to our MILS Yokohama Laboratory.
August 29, 2025
Dr.Usha Dave
８月28日にMILS India laboratory director Dr. Usha Dave が技術並びに検査サービス向上のため、YOKOHAMA Labに来訪しました。
On 28 August, MILS India laboratory director Dr Usha Dave visited MILS YOKOHAMA Laboratory to improve technical and laboratory services.
Dr. Usha Dave from MILS India came to our MILS Yokohama Laboratory. We are collaborating for almost past 25 years. This August month, 52 high-risk cases of suspected IEMs patient samples were analyzed from India and data was analyzed in Yokohama Laboratory. Out of which 6 cases were confirmed diagnosis and 5 cases (Table) were with highly suspicious IEMs.
| Diagnosed 診断例 |
|
|---|---|
| Alcaptonuria Entry - #203500 - ALKAPTONURIA; AKU - OMIM - (OMIM.ORG) | 2 |
| T2 Entry - *607809 - ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1 - OMIM - (OMIM.ORG) | 1 |
| methylmalonic acidemia Entry - #277410 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD - OMIM - (OMIM.ORG) | 2 |
| glutaric acidemia I Entry - #231670 - GLUTARIC ACIDEMIA I; GA1 - OMIM - (OMIM.ORG) | 1 |
| Suspected 疑い例 |
|
|---|---|
| CMAMMA Entry - #614265 - COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA - OMIM - (OMIM.ORG) | 1 |
| Tyrosinemia Entry - #276700 - TYROSINEMIA, TYPE I; TYRSN1 - OMIM - (OMIM.ORG) | 2 |
| fumaric acidemia Entry - #606812 - FUMARASE DEFICIENCY; FMRD - OMIM - (OMIM.ORG) | 2 |
