Spada M - Search Results

1

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.

2

Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.

Porta F, Spada M, Ponzone A. Porta F, et al. Among authors: spada m. Pediatrics. 2017 Aug;140(2):e20161591. doi: 10.1542/peds.2016-1591. Epub 2017 Jul 5. Pediatrics. 2017. PMID: 28679641

3

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

4

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

5

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M. Ponzone A, et al. Among authors: spada m. Metabolism. 2010 May;59(5):645-52. doi: 10.1016/j.metabol.2009.09.008. Epub 2009 Nov 14. Metabolism. 2010. PMID: 19913839

6

Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.

Porta F, Ponzone A, Spada M. Porta F, et al. Among authors: spada m. J Pediatr. 2016 Jan;168:236-239.e1. doi: 10.1016/j.jpeds.2015.09.062. Epub 2015 Oct 27. J Pediatr. 2016. PMID: 26515614

7

Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects.

Porta F, Ponzone A, Spada M. Porta F, et al. Among authors: spada m. Eur J Paediatr Neurol. 2020 Sep;28:77-80. doi: 10.1016/j.ejpn.2020.07.011. Epub 2020 Aug 1. Eur J Paediatr Neurol. 2020. PMID: 32800687

8

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

9

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

10

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.

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