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- [5] TREATMENT WITH NEUROTRANSMITTER PRECURSORS AND FOLATE IN A CASE OF ATYPICAL PHENYLKETONURIA WITH DIHYDROPTERIDINE REDUCTASE DEFICIENCY BRAIN & DEVELOPMENT, 1981, 3 (02): : 231 - 231
- [7] GATA2 deficiency detected by newborn screening for SCID: A case report FRONTIERS IN PEDIATRICS, 2023, 10
- [9] Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency Orphanet Journal of Rare Diseases, 18