41
TITLE: MUTATION ANALYSIS OF PHENYLKETONURIA IN SOUTH AND CENTRAL PORTUGAL - PREVELANCE OF V388M MUTATION
AUTHORS: LEANDRO, P ; RIVERA, I ; RIBEIRO, V ; DEALMEIDA, IT ; DASILVEIRA, CL; LECHNER, MC;
PUBLISHED: 1995, SOURCE: HUMAN MUTATION, VOLUME: 6, ISSUE: 2
INDEXED IN: Scopus WOS
IN MY: ORCID
42
TITLE: TETRAHYDROBIOPTERIN DEFICIENCY IN PORTUGAL - RESULTS OF THE SCREENING FOR HYPERPHENYLALANINEMIA
AUTHORS: DEALMEIDA, IT ; LEANDRO, PP ; PORTEL, R; CABRAL, A; EUSEBIO, F; TASSO, T; MATASOVIC, A; BLAU, N;
PUBLISHED: 1993, SOURCE: 10TH INTERNATIONAL SYMP ON CHEMISTRY AND BIOLOGY OF PTERIDINES in CHEMISTRY AND BIOLOGY OF PTERIDINES AND FOLATES, VOLUME: 338
INDEXED IN: Scopus WOS
IN MY: ORCID
43
TITLE: Post- and prenatal diagnosis of propionic acidemia in a Portuguese family at risk
AUTHORS: Silva, MB; De Almeida, IT ; Amaral, J; Tavares, M; Carreiro, H; Tome, T; Silveira, C; Duran, M; Jakobs, C;
PUBLISHED: 1992, SOURCE: International Pediatrics, VOLUME: 7, ISSUE: 4
INDEXED IN: Scopus
IN MY: ORCID
44
TITLE: A single HPLC system for the evaluation of purine and pyrimidine metabolites in body fluids
AUTHORS: Rivera, IA ; De Almeida, IT ; Silveira, C;
PUBLISHED: 1991, SOURCE: Advances in Experimental Medicine and Biology, VOLUME: 309, ISSUE: Part B
INDEXED IN: Scopus
IN MY: ORCID
45
TITLE: TYROSINEMIA TYPE-I WITH NORMAL LEVELS OF PLASMA TYROSINE
AUTHORS: DEALMEIDA, IT ; LEANDRO, PP ; SILVA, MFB ; SILVEIRA, C; DASILVA, A; DESOUSA, JS; DURAN, M;
PUBLISHED: 1990, SOURCE: 1989 ANNUAL MEETING OF THE SOC FOR THE STUDY OF INBORN ERRORS OF METABOLISM in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 13, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID
46
TITLE: Phenylketonuria--physical and mental development of phenylketonuric children subjected to early treatment [Fenilcetonúria--desenvolvimento físico e mental de crianças fenilcetonúricas tratadas precocemente.]
AUTHORS: Cabral, A; Portela, R; Tasso, T; Eusebio, F; Guilherme, A; Lorga, L; De Almeida, IT ; Silveira, C; Levy, ML;
PUBLISHED: 1989, SOURCE: Acta medica portuguesa, VOLUME: 2, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
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