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5 in total

Review 1. Inborn errors of pterin metabolism.

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

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. Intracranial calcification in dihydropteridine reductase deficiency.

Authors: T Coşkun; A Besim; I Ozalp; M Eryilmaz
Journal: Turk J Pediatr Date: 1990 Oct-Dec Impact factor: 0.552

4. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.

Authors: N Arai; K Narisawa; H Hayakawa; K Tada
Journal: Pediatrics Date: 1982-09 Impact factor: 7.124

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

5 in total

2 in total

1. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).

Authors: A Romstad; H S Kalkanoğlu; T Coşkun; M Demirkol; A Tokatli; A Dursun; T Baykal; I Ozalp; P Guldberg; F Güttler
Journal: Hum Genet Date: 2000-12 Impact factor: 4.132

2. Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Authors: Ayse Ergul Bozaci; Esra Er; Havva Yazici; Ebru Canda; Sema Kalkan Uçar; Merve Güvenc Saka; Cenk Eraslan; Hüseyin Onay; Sara Habif; Beat Thöny; Mahmut Coker
Journal: JIMD Rep Date: 2021-02-01

2 in total