Spada M - Search Results

1

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.

Ponzone A, Guardamagna O, Spada M, Ponzone R, Sartore M, Kierat L, Heizmann CW, Blau N. Ponzone A, et al. Among authors: spada m. Clin Chim Acta. 1993 Jul 16;216(1-2):63-71. doi: 10.1016/0009-8981(93)90139-u. Clin Chim Acta. 1993. PMID: 8222274

2

Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency.

Ponzone A, Ferraris S, Spada M, Blau N, Piovan S, Burlina AB. Ponzone A, et al. Among authors: spada m. Eur J Pediatr. 1994 Aug;153(8):616. doi: 10.1007/BF02190677. Eur J Pediatr. 1994. PMID: 7957416 No abstract available.

3

Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.

Spada M, Guardamagna O, Rabier D, van der Meer SB, Parvy P, Bardet J, Ponzone A, Saudubray JM. Spada M, et al. J Pediatr. 1994 Aug;125(2):249-51. doi: 10.1016/s0022-3476(94)70205-5. J Pediatr. 1994. PMID: 8040774

4

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, Blau N. Ponzone A, et al. Among authors: spada m. Eur J Pediatr. 1993 Aug;152(8):655-61. doi: 10.1007/BF01955242. Eur J Pediatr. 1993. PMID: 8404969

5

Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.

Ponzone A, Guardamagna O, Dianzani I, Ponzone R, Ferrero GB, Spada M, Cotton RG. Ponzone A, et al. Among authors: spada m. Pediatr Res. 1993 Feb;33(2):125-8. doi: 10.1203/00006450-199302000-00007. Pediatr Res. 1993. PMID: 8433887

6

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin.

Spada M, Ferraris S, Ferrero GB, Sartore M, Lanza C, Perfetto F, de Sanctis L, Dompé C, Blau N, Ponzone A. Spada M, et al. J Inherit Metab Dis. 1996;19(2):231-3. doi: 10.1007/BF01799437. J Inherit Metab Dis. 1996. PMID: 8739973 No abstract available.

7

Phenotyping of phenylketonuric patients by oral phenylalanine loading.

Ponzone A, Spada M, de Sanctis L, Dianzani I. Ponzone A, et al. Among authors: spada m. Eur J Pediatr. 1996 Jun;155(6):523-5. doi: 10.1007/BF01955198. Eur J Pediatr. 1996. PMID: 8789776 No abstract available.

8

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

Blau N, Thony B, Spada M, Ponzone A. Blau N, et al. Among authors: spada m. Turk J Pediatr. 1996 Jan-Mar;38(1):19-35. Turk J Pediatr. 1996. PMID: 8819618 Review.

9

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N. Oppliger T, et al. Among authors: spada m. Hum Mutat. 1997;10(1):25-35. doi: 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L. Hum Mutat. 1997. PMID: 9222757

10

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.

Spada M, Dianzani I, Bonetti G, Biondi A, Leone L, Giannattasio S, Ponzone A. Spada M, et al. J Inherit Metab Dis. 1998 Jun;21(3):236-9. doi: 10.1023/a:1005355802928. J Inherit Metab Dis. 1998. PMID: 9686365 No abstract available.

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