Literature DB >> 2512438

Primapterinuria: a new variant of atypical phenylketonuria.

N Blau1, H C Curtius, T Kuster, A Matasovic, G Schoedon, J L Dhondt, P Guibaud, T Giudici, M Blaskovics.   

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Year:  1989        PMID： 2512438     DOI： 10.1007/bf03335415

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


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  3 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.  High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins.

Authors:  A Niederwieser; W Staudenmann; E Wetzel
Journal:  J Chromatogr       Date:  1984-05-04

3.  Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.

Authors:  H C Curtius; T Kuster; A Matasovic; N Blau; J L Dhondt
Journal:  Biochem Biophys Res Commun       Date:  1988-06-16       Impact factor: 3.575
  3 in total
  7 in total

1.  Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.

Authors:  N Blau; L Kierat; H C Curtius; M Blaskovics; T Giudici
Journal:  J Inherit Metab Dis       Date:  1992       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.  Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

Authors:  B Thöny; F Neuheiser; L Kierat; M Blaskovics; P H Arn; P Ferreira; I Rebrin; J Ayling; N Blau
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 4.  Urine-Based Liquid Biopsy for Nonurological Cancers.

Authors:  Surbhi Jain; Selena Y Lin; Wei Song; Ying-Hsiu Su
Journal:  Genet Test Mol Biomarkers       Date:  2019-04

5.  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

6.  "7-tetrahydrobiopterin," a naturally occurring analogue of tetrahydrobiopterin, is a cofactor for and a potential inhibitor of the aromatic amino acid hydroxylases.

Authors:  M D Davis; P Ribeiro; J Tipper; S Kaufman
Journal:  Proc Natl Acad Sci U S A       Date:  1992-11-01       Impact factor: 11.205

7.  Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.

Authors:  M D Davis; S Kaufman; S Milstien
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-15       Impact factor: 11.205
  7 in total

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