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[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
Ann Biol Clin (Paris). 2002 Mar-Apr; 60(2):165-71.AB

Abstract

Tetrahydrobiopterin deficiency in hyperphenylalaninemic babies has to be rapidly recognized since the disease requires a specific follow-up. Based on specimen collection on filter paper, a simple strategy for the screening of this condition has been used since 1987. Urine pteridine measurement can detect 6-pyruvoyl-tetrahydropterin synthase, GTPcyclohydrolase I and pterin-4a-carbinolamine dehydratase deficiencies and direct enzyme measurement in dried blood sample detects dihydropteridine-reductase deficiency. A total of 1,814 hyperphenylalaninemic patients have been studied and 34 tetrahydrobiopterin deficiencies have been detected. The strategy must commend itself by its convenience and simplicity, and can be use on all babies with hyperphenylalaninemia screened in the neonatal period, whatever their blood phenylalanine level.

Authors+Show Affiliations

Laboratoire de biochimie, Hôpital Saint-Philibert, 115, rue du Grand-But, 59462 Lomme cedex.No affiliation info available

Pub Type(s)

English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

fre

PubMed ID

11937441

Citation

Dhondt, J L., and J M. Hayte. "[Screening of Tetrahydrobiopterin Deficiency Among Hyperphenylalaninemic Patients]." Annales De Biologie Clinique, vol. 60, no. 2, 2002, pp. 165-71.
Dhondt JL, Hayte JM. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. Ann Biol Clin (Paris). 2002;60(2):165-71.
Dhondt, J. L., & Hayte, J. M. (2002). [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. Annales De Biologie Clinique, 60(2), 165-71.
Dhondt JL, Hayte JM. [Screening of Tetrahydrobiopterin Deficiency Among Hyperphenylalaninemic Patients]. Ann Biol Clin (Paris). 2002 Mar-Apr;60(2):165-71. PubMed PMID: 11937441.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. AU - Dhondt,J L, AU - Hayte,J M, PY - 2002/4/9/pubmed PY - 2002/7/4/medline PY - 2002/4/9/entrez SP - 165 EP - 71 JF - Annales de biologie clinique JO - Ann Biol Clin (Paris) VL - 60 IS - 2 N2 - Tetrahydrobiopterin deficiency in hyperphenylalaninemic babies has to be rapidly recognized since the disease requires a specific follow-up. Based on specimen collection on filter paper, a simple strategy for the screening of this condition has been used since 1987. Urine pteridine measurement can detect 6-pyruvoyl-tetrahydropterin synthase, GTPcyclohydrolase I and pterin-4a-carbinolamine dehydratase deficiencies and direct enzyme measurement in dried blood sample detects dihydropteridine-reductase deficiency. A total of 1,814 hyperphenylalaninemic patients have been studied and 34 tetrahydrobiopterin deficiencies have been detected. The strategy must commend itself by its convenience and simplicity, and can be use on all babies with hyperphenylalaninemia screened in the neonatal period, whatever their blood phenylalanine level. SN - 0003-3898 UR - https://wwww.unboundmedicine.com/medline/citation/11937441/[Screening_of_tetrahydrobiopterin_deficiency_among_hyperphenylalaninemic_patients]_ L2 - http://www.jle.com/medline.md?issn=0003-3898&vol=60&iss=2&page=165 DB - PRIME DP - Unbound Medicine ER -