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Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.
J Inherit Metab Dis. 1991; 14(2):117-27.JI

Abstract

Tetrahydrobiopterin deficiency in hyperphenylalaninaemic babies has to be rapidly recognized since the disease requires a specific treatment. Based on 15 years experience, we report on the evolution of a strategy for the detection of such patients. A total of 913 hyperphenylalaninaemic patients have been studied and 15 tetrahydrobiopterin deficiencies have been detected or confirmed. DHPR assay in dried blood samples and pteridine measurement in urine collected on filter paper combine convenient sampling and reliable tests for systematic investigation of hyperphenylalaninaemic patients for cofactor deficiency.

Authors+Show Affiliations

Laboratoire de Biochimie, Faculté Libre de Médecine, Lille, France.

Pub Type(s)

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

Language

eng

PubMed ID

1886401

Citation

Dhondt, J L.. "Strategy for the Screening of Tetrahydrobiopterin Deficiency Among Hyperphenylalaninaemic Patients: 15-years Experience." Journal of Inherited Metabolic Disease, vol. 14, no. 2, 1991, pp. 117-27.
Dhondt JL. Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience. J Inherit Metab Dis. 1991;14(2):117-27.
Dhondt, J. L. (1991). Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience. Journal of Inherited Metabolic Disease, 14(2), 117-27.
Dhondt JL. Strategy for the Screening of Tetrahydrobiopterin Deficiency Among Hyperphenylalaninaemic Patients: 15-years Experience. J Inherit Metab Dis. 1991;14(2):117-27. PubMed PMID: 1886401.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience. A1 - Dhondt,J L, PY - 1991/1/1/pubmed PY - 1991/1/1/medline PY - 1991/1/1/entrez SP - 117 EP - 27 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 14 IS - 2 N2 - Tetrahydrobiopterin deficiency in hyperphenylalaninaemic babies has to be rapidly recognized since the disease requires a specific treatment. Based on 15 years experience, we report on the evolution of a strategy for the detection of such patients. A total of 913 hyperphenylalaninaemic patients have been studied and 15 tetrahydrobiopterin deficiencies have been detected or confirmed. DHPR assay in dried blood samples and pteridine measurement in urine collected on filter paper combine convenient sampling and reliable tests for systematic investigation of hyperphenylalaninaemic patients for cofactor deficiency. SN - 0141-8955 UR - https://wwww.unboundmedicine.com/medline/citation/1886401/Strategy_for_the_screening_of_tetrahydrobiopterin_deficiency_among_hyperphenylalaninaemic_patients:_15_years_experience_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1991&volume=14&issue=2&spage=117 DB - PRIME DP - Unbound Medicine ER -