Ponzone A - Search Results

1

Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.

Blau N, Kierat L, Matasovic A, Leimbacher W, Heizmann CW, Guardamagna O, Ponzone A. Blau N, et al. Among authors: ponzone a. Clin Chim Acta. 1994 May;226(2):159-69. doi: 10.1016/0009-8981(94)90213-5. Clin Chim Acta. 1994. PMID: 7923811

2

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: ponzone r. 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

3

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: ponzone a. 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

4

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

Jäggi L, Zurflüh MR, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N. Jäggi L, et al. Among authors: ponzone a. Mol Genet Metab. 2008 Mar;93(3):295-305. doi: 10.1016/j.ymgme.2007.10.004. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18060820

5

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: ponzone r. Eur J Pediatr. 1993 Aug;152(8):655-61. doi: 10.1007/BF01955242. Eur J Pediatr. 1993. PMID: 8404969

6

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

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

7

Tetrahydrobiopterin loading test in hyperphenylalaninemia.

Ponzone A, Guardamagna O, Ferraris S, Ferrero GB, Dianzani I, Cotton RG. Ponzone A, et al. Pediatr Res. 1991 Nov;30(5):435-8. doi: 10.1203/00006450-199111000-00008. Pediatr Res. 1991. PMID: 1754298

8

[Trial of indirect screening of tetrahydrobiopterin deficiency].

Ferraris S, Guardamagna O, Bracco G, Ponzone A. Ferraris S, et al. Among authors: ponzone a. Pediatrie. 1987;42(7):549-55. Pediatrie. 1987. PMID: 3444720 French.

9

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: ponzone r. Pediatr Res. 1993 Feb;33(2):125-8. doi: 10.1203/00006450-199302000-00007. Pediatr Res. 1993. PMID: 8433887

10

Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver.

Niederwieser A, Leimbacher W, Curtius HC, Ponzone A, Rey F, Leupold D. Niederwieser A, et al. Among authors: ponzone a. Eur J Pediatr. 1985 May;144(1):13-6. doi: 10.1007/BF00491917. Eur J Pediatr. 1985. PMID: 2990933

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