𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Dihydropteridine reductase deficiency: Clinical, biochemical and therapeutic aspects

✍ Scribed by R. Cerone; S. Scalisi; M. Cotellessa; M. C. Schiaffino; U. Caruso; C. Romano


Publisher
Springer
Year
1986
Tongue
English
Weight
167 KB
Volume
9
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Molecular basis of dihydropteridine redu
✍ Peter M. Smooker; Richard G. H. Cotton πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 498 KB

Communicated by Savio L.C. Woo The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described wh

Glut-1 deficiency syndrome: Clinical, ge
✍ Dong Wang; Juan M. Pascual; Hong Yang; Kristin Engelstad; Sarah Jhung; Ruo Peng πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 106 KB

## Abstract Impaired glucose transport across the blood‐brain barrier results in Glut‐1 deficiency syndrome (Glut‐1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. We studied 16 new Glut‐1 deficiency syndr

Dihydropteridine reductase deficiency in
✍ Alberto Ponzone; Marco Spada; Silvio Ferraris; Irma Dianzani; Luisa de Sanctis πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 356 KB

## Abstract In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH~4~) deficiency, leading to hyperphenylalaninemia (HPA) and impaired biogenic amine deficiency. So far, more than 150 patients scattered worldwide have been reported and major