Blau N - 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: blau n. 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

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. Clin Chim Acta. 1994 May;226(2):159-69. doi: 10.1016/0009-8981(94)90213-5. Clin Chim Acta. 1994. PMID: 7923811

3

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

4

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.

Ponzone A, Blau N, Guardamagna O, Ferrero GB, Dianzani I, Endres W. Ponzone A, et al. Among authors: blau n. J Inherit Metab Dis. 1990;13(3):298-300. doi: 10.1007/BF01799379. J Inherit Metab Dis. 1990. PMID: 1700190 No abstract available.

5

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW. Thöny B, et al. Among authors: blau n. Am J Hum Genet. 1994 May;54(5):782-92. Am J Hum Genet. 1994. PMID: 8178819 Free PMC article.

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. Among authors: blau n. J Inherit Metab Dis. 1996;19(2):231-3. doi: 10.1007/BF01799437. J Inherit Metab Dis. 1996. PMID: 8739973 No abstract available.

7

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N. Bonafé L, et al. Among authors: blau n. Clin Chem. 2001 Mar;47(3):477-85. Clin Chem. 2001. PMID: 11238300

8

Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.

Oppliger T, Thöny B, Nar H, Bürgisser D, Huber R, Heizmann CW, Blau N. Oppliger T, et al. Among authors: blau n. J Biol Chem. 1995 Dec 8;270(49):29498-506. doi: 10.1074/jbc.270.49.29498. J Biol Chem. 1995. PMID: 7493990 Free article.

9

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

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

10

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: blau n. 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

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