Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
Saved in:
| Title: | Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation. |
|---|---|
| Authors: | Kılıç M; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, University of Health Sciences, Ankara, Turkey., Sayar E; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., İcil S; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., Doğan S; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., Gökçe-Altaş G; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., Koşukcu C; Department of Bioinformatics, Hacettepe University Graduate School of Health Sciences, Ankara, Turkey., Bakır A; Department of Genetics, Ankara Etlik City Hospital, Ankara, Turkey., Sezer A; Department of Genetics, Ankara Etlik City Hospital, Ankara, Turkey. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jul; Vol. 197 (7), pp. e64037. Date of Electronic Publication: 2025 Mar 06. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1552-4833 |
|---|---|
| DOI: | 10.1002/ajmg.a.64037 |
