Literature DB >> 3391231

Problems in the diagnosis of tetrahydrobiopterin deficiency.

J L Dhondt, M Meyer, G Malpuech.   

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Year:  1988        PMID： 3391231     DOI： 10.1007/bf00442711

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  2 in total

1.  Biopterin synthesis defects: problems in diagnosis.

Authors:  G Hoganson; S Berlow; S Kaufman; S Milstien; V Schuett; R Matalon; E Naylor; W Seifert
Journal:  Pediatrics       Date:  1984-12       Impact factor: 7.124

2.  "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
  2 in total
  1 in total

Review 1.  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
  1 in total

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