Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1987 1
1988 1
1991 2
1992 1
1993 1
2000 1
2004 1
2010 1
2011 1
2012 2
2013 1
2017 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Results by year

Filters applied: . Clear all
Page 1
Cerebral folate deficiency.
Ramaekers VT, Blau N. Ramaekers VT, et al. Dev Med Child Neurol. 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. Dev Med Child Neurol. 2004. PMID: 15581159 Free article.
Secondary forms of CFD have been recognized during chronic use of antifolate and anticonvulsant drugs and in various known conditions such as Rett syndrome, Aicardi-Goutieres syndrome, 3-phosphoglycerate dehydrogenase deficiency, dihydropteridine reductase defici …
Secondary forms of CFD have been recognized during chronic use of antifolate and anticonvulsant drugs and in various known conditions such a …
Dopamine agonists in dihydropteridine reductase deficiency.
Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Porta F, et al. Mol Genet Metab. 2012 Apr;105(4):582-4. doi: 10.1016/j.ymgme.2012.01.013. Epub 2012 Jan 25. Mol Genet Metab. 2012. PMID: 22325981
Besides allowing the reduction of L-dopa daily dosage (-58%) and administrations (from three to two) in one patient and to stop L-dopa therapy in the other, the introduction of pramipexole markedly improved and stabilized clinical and biochemical picture in both patients, as reve …
Besides allowing the reduction of L-dopa daily dosage (-58%) and administrations (from three to two) in one patient and to stop L-dopa thera …
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R. Batllori M, et al. Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8. Sci Rep. 2017. PMID: 29116116 Free PMC article.
Further 11 patients were studied after receiving serotoninergic treatment (serotonin precursors, monoamine oxidase inhibitors, selective serotonin re-uptake inhibitors): 5 with aromatic L-amino acid decarboxylase deficiency; 1 with sepiapterin reductase deficiency; 3 with dihy …
Further 11 patients were studied after receiving serotoninergic treatment (serotonin precursors, monoamine oxidase inhibitors, selective ser …
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
Dahl HH, Hutchison W, McAdam W, Wake S, Morgan FJ, Cotton RG. Dahl HH, et al. Nucleic Acids Res. 1987 Mar 11;15(5):1921-32. doi: 10.1093/nar/15.5.1921. Nucleic Acids Res. 1987. PMID: 3031582 Free PMC article.
We report the isolation of a cDNA clone for hDHPR that spans the complete coding region, and present the nucleotide sequence and the predicted amino acid sequence. The hDHPR protein does not share extensive homology with the enzymatically related protein human dihydrofolat …
We report the isolation of a cDNA clone for hDHPR that spans the complete coding region, and present the nucleotide sequence and the pred …
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
Ponzone A, Guardamagna O, Dianzani I, Ponzone R, Ferrero GB, Spada M, Cotton RG. Ponzone A, et al. Pediatr Res. 1993 Feb;33(2):125-8. doi: 10.1203/00006450-199302000-00007. Pediatr Res. 1993. PMID: 8433887
This has limited the use of pterin cofactor in diagnosis and treatment of patients suffering from inherited DHPR deficiency, one of the most common forms of hyperphenylalaninemia caused by BH4 deficiency. This is despite the observation of a dramatic fall in serum Phe conc …
This has limited the use of pterin cofactor in diagnosis and treatment of patients suffering from inherited DHPR deficiency, one of the most …
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan.
Shintaku H, Ohwada M. Shintaku H, et al. Brain Dev. 2013 May;35(5):406-10. doi: 10.1016/j.braindev.2012.06.010. Epub 2012 Jul 24. Brain Dev. 2013. PMID: 22832064
Seventeen patients were diagnosed with 6-pyruvoyl tetrahydropterin synthase deficiency and two with dihydropteridine reductase deficiency at an average age of 3.6 months; the mean age at end of follow-up was 14.6 years. ...Serum phenylalanine was reduced from …
Seventeen patients were diagnosed with 6-pyruvoyl tetrahydropterin synthase deficiency and two with dihydropteridine reductase …
Tetrahydrobiopterin loading test in hyperphenylalaninemia.
Ponzone A, Guardamagna O, Ferraris S, Ferrero GB, Dianzani I, Cotton RG. Ponzone A, et al. Pediatr Res. 1991 Nov;30(5):435-8. doi: 10.1203/00006450-199111000-00008. Pediatr Res. 1991. PMID: 1754298
Methods based on urinary pterin or on specific enzyme activity measurements are limited in their availability, and the simplest method, based on the lowering of serum phenylalanine after loading with cofactor, was discouraged by the finding that some dihydropteridine reductase-de …
Methods based on urinary pterin or on specific enzyme activity measurements are limited in their availability, and the simplest method, base …
Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).
Takashima S, Chan F, Becker LE. Takashima S, et al. Pediatr Pathol. 1991 Sep-Oct;11(5):771-9. doi: 10.3109/15513819109065472. Pediatr Pathol. 1991. PMID: 1745643
The neuropathology of a 2 1/2-year-old patient with dihydropteridine reductase deficiency showed diffuse demyelination throughout white matter and spongy vacuolation in the long tracts of the brain stem. These changes are characteristic neuropathologic obs …
The neuropathology of a 2 1/2-year-old patient with dihydropteridine reductase deficiency showed diffuse demyelination …
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
Mikaeloff Y, Plouin P, Dhondt JL, Ponsot G, Dulac O. Mikaeloff Y, et al. Epileptic Disord. 2000 Dec;2(4):213-7. Epileptic Disord. 2000. PMID: 11174152 Free article.
In rare cases, it is due to an inherited, progressive metabolic disease. We report a 2 year-old child with dihydropteridine reductase deficiency who developed hypsarrhythmia and infantile spasms which were documented on video-polygraphic EEG. Despite dietary …
In rare cases, it is due to an inherited, progressive metabolic disease. We report a 2 year-old child with dihydropteridine reduct …
Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation.
Karam PE, Daher RT, Moller LB, Mikati MA. Karam PE, et al. J Child Neurol. 2011 Feb;26(2):142-6. doi: 10.1177/0883073810375116. Epub 2010 Sep 7. J Child Neurol. 2011. PMID: 20823030
Only 29.3% were detected by neonatal screening. Two unusual cases were observed in the context of inadequate treatment in 1 and delayed therapy in the other: a newborn with PKU developed severe keratomalacia; and a 5-year-old girl with dihydropteridine reductase …
Only 29.3% were detected by neonatal screening. Two unusual cases were observed in the context of inadequate treatment in 1 and delay …
13 results