Literature DB >> 1886401

Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.

J L Dhondt1.   

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.

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Year:  1991        PMID： 1886401     DOI： 10.1007/bf01800581

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  23 in total

1.  Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.

Authors:  J L Dhondt; P Guibaud; M O Rolland; C Dorche; S Andre; G Forzy; J M Hayte
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

2.  Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.

Authors:  J L Dhondt; P Tilmont; J Ringel; J P Farriaux
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.

Authors:  R A Armstrong; A Sahota; J A Blair; B E Cohen
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins.

Authors:  N Blau; J L Dhondt; P Guibaud; T Kuster; H C Curtius
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

5.  Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.

Authors:  H C Curtius; A Niederwieser; M Viscontini; A Otten; J Schaub; S Scheibenreiter; H Schmidt
Journal:  Clin Chim Acta       Date:  1979-04-16       Impact factor: 3.786

6.  Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment.

Authors:  I Smith; J Lloyd
Journal:  Arch Dis Child       Date:  1974-03       Impact factor: 3.791

Review 7.  Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.

Authors:  J L Dhondt
Journal:  J Pediatr       Date:  1984-04       Impact factor: 4.406

8.  Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia).

Authors:  D M Danks; R G Cotton
Journal:  J Pediatr       Date:  1980-05       Impact factor: 4.406

9.  Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.

Authors:  S Milstien; S Kaufman; G K Summer
Journal:  Pediatrics       Date:  1980-04       Impact factor: 7.124

10.  [Evaluation of 6-years' experience of screening for hyperphenylalaninemia caused by cofactor deficiency].

Authors:  J L Dhondt; J P Farriaux; J M Hayte
Journal:  Arch Fr Pediatr       Date:  1986-12
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  9 in total

1.  Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.

Authors:  Jean-Louis Dhondt
Journal:  J Inherit Metab Dis       Date:  2010-05-11       Impact factor: 4.982

2.  Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper.

Authors:  N Blau; L Kierat; C W Heizmann; W Endres; T Giudici; M Wang
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  International database of tetrahydrobiopterin deficiencies.

Authors:  N Blau; I Barnes; J L Dhondt
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

Authors:  Shohreh Khatami; Soghra Rouhi Dehnabeh; Sirous Zeinali; Beat Thöny; Mohammadreza Alaei; Shadab Salehpour; Aria Setoodeh; Farzaneh Rohani; Fatemeh Hajivalizadeh; Ashraf Samavat
Journal:  JIMD Rep       Date:  2016-06-01

5.  The Comparison of Iodine-Type and MnO2-Type Oxidation for Measuring the Levels of Urine Neopterin and Biopterin in Patients with Hyperphenylalaninemia: A Descriptive-Analytic Study in Iran.

Authors:  Atena Askarizadeh; Shohreh Khatami; Soghra Rouhi Dehnabeh
Journal:  Indian J Clin Biochem       Date:  2018-08-23

6.  Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse.

Authors:  M P Brand; S J Heales; J M Land; J B Clark
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

Authors:  A Ponzone; O Guardamagna; M Spada; S Ferraris; R Ponzone; L Kierat; N Blau
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

Review 8.  The complete European guidelines on phenylketonuria: diagnosis and treatment.

Authors:  A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2017-10-12       Impact factor: 4.123

9.  Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.

Authors:  Mehdi Shokri; Parviz Karimi; Hadis Zamanifar; Fatemeh Kazemi; Gholamreza Badfar; Milad Azami
Journal:  BMC Pediatr       Date:  2020-07-24       Impact factor: 2.125
  9 in total

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