Literature DB >> 1700190

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.

A Ponzone1, N Blau, O Guardamagna, G B Ferrero, I Dianzani, W Endres.   

Abstract

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Year:  1990        PMID： 1700190     DOI： 10.1007/bf01799379

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


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  6 in total

1.  Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver.

Authors:  A Niederwieser; W Leimbacher; H C Curtius; A Ponzone; F Rey; D Leupold
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

Review 2.  Inborn errors of pterin metabolism.

Authors:  N Blau
Journal:  Annu Rev Nutr       Date:  1988       Impact factor: 11.848

3.  Phenylalaninaemia. Differential diagnosis.

Authors:  M E Blaskovics; G E Schaeffler; S Hack
Journal:  Arch Dis Child       Date:  1974-11       Impact factor: 3.791

4.  Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.

Authors:  F Güttler; H Lou; C Lykkelund; A Niederwieser
Journal:  Eur J Pediatr       Date:  1984-06       Impact factor: 3.183

5.  Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers.

Authors:  H Shintaku; A Niederwieser; W Leimbacher; H C Curtius
Journal:  Eur J Pediatr       Date:  1988-01       Impact factor: 3.183

6.  "Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

Authors:  A Niederwieser; H Shintaku; W Leimbacher; H C Curtius; J Hyànek; J Zeman; W Endres
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183
  6 in total
  5 in total

1.  An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.

Authors:  Thomas Opladen; Georg F Hoffmann; Nenad Blau
Journal:  J Inherit Metab Dis       Date:  2012-06-23       Impact factor: 4.982

2.  A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece.

Authors:  K H Schulpis; A Covanis; M Loumakou; N Frantzis; O Papandreou; A Divolli; S Missiou-Tsagaraki; L Kierat; N Blau
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 3.  Abnormalities of biogenic amine metabolism.

Authors:  K Hyland
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  A requirement for Gch1 and tetrahydrobiopterin in embryonic development.

Authors:  Gillian Douglas; Ashley B Hale; Mark J Crabtree; Brent J Ryan; Alex Hansler; Katrin Watschinger; Steven S Gross; Craig A Lygate; Nicholas J Alp; Keith M Channon
Journal:  Dev Biol       Date:  2014-12-31       Impact factor: 3.582

Review 5.  Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Authors:  Thomas Opladen; Eduardo López-Laso; Elisenda Cortès-Saladelafont; Toni S Pearson; H Serap Sivri; Yilmaz Yildiz; Birgit Assmann; Manju A Kurian; Vincenzo Leuzzi; Simon Heales; Simon Pope; Francesco Porta; Angeles García-Cazorla; Tomáš Honzík; Roser Pons; Luc Regal; Helly Goez; Rafael Artuch; Georg F Hoffmann; Gabriella Horvath; Beat Thöny; Sabine Scholl-Bürgi; Alberto Burlina; Marcel M Verbeek; Mario Mastrangelo; Jennifer Friedman; Tessa Wassenberg; Kathrin Jeltsch; Jan Kulhánek; Oya Kuseyri Hübschmann
Journal:  Orphanet J Rare Dis       Date:  2020-05-26       Impact factor: 4.123
  5 in total

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