Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency-Reference-Cited by-同舟云学术

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Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency

Published:1988-02 Issue:2 Volume:147 Page:153-157
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Dhondt J. L.,Guibaud P.,Rolland M. O.,Dorche C.,Andre S.,Forzy G.,Hayte J. M.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF00442213.pdf

Reference17 articles.

1. Bartholomé K (1974) A new molecular defect in phenylketonuria. Lancet II: 1580

2. Clemens P, Gruttner R (1985) Transient defect in the synthesis of biopterin. J Pediatr 107: 312?313

3. Dhondt JL (1984) Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. J Pediatr 104: 501?508

4. Dhondt JL, Largillière C, Ardouin P, Farriaux JP, Dautrevaux M (1981) Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine. Clin Chim Acta 110: 205?214

5. Dhondt JL, Ardouin P, Hayte JM, Farriaux JP (1981) Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism. Clin Chim Acta 116: 143?152

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