Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

1997 ◽  
Vol 100 (5-6) ◽  
pp. 637-642 ◽  
Author(s):  
Hiroyuki Ikeda ◽  
Y. Matsubara ◽  
Hitoshi Mikami ◽  
Shigeo Kure ◽  
Misao Owada ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Japanese Patients ◽  
Dihydropteridine Reductase ◽  
Novel Mutations ◽  
Reductase Deficiency

Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer

1990 ◽  
Vol 13 (5) ◽  
pp. 787-791 ◽  
Author(s):  
H. Mikami ◽  
Y. Matsubara ◽  
K. Hayasaka ◽  
K. Narisawa ◽  
M. Obinata ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Gene Transfer ◽  
Molecular Analysis ◽  
Dihydropteridine Reductase ◽  
Reductase Deficiency

scholarly journals Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

2001 ◽  
Vol 18 (3) ◽  
pp. 253-253 ◽  
Author(s):  
Yasukazu Yamada ◽  
Kiyokuni Miura ◽  
Toshiyuki Kumagai ◽  
Chiemi Hayakawa ◽  
Shuji Miyazaki ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Molecular Analysis ◽  
Japanese Patients ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Genotype Phenotype Correlation

Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks

2009 ◽  
Vol 380 (3) ◽  
pp. 548-553 ◽  
Author(s):  
Naoyuki Sato ◽  
Tomohiro Nakayama ◽  
Yoshihiro Mizutani ◽  
Mitsuko Yuzawa
Keyword(s):  
Japanese Patients ◽  
Angioid Streaks ◽  
Novel Mutations ◽  
Abcc6 Gene

Neuroblastoma in a patient with dihydropteridine reductase deficiency

1990 ◽  
Vol 149 (10) ◽  
pp. 713-715 ◽  
Author(s):  
L. G. Greeves ◽  
R. J. Leeming ◽  
K. Hyland ◽  
S. I. Dempsey ◽  
D. J. Carson
Keyword(s):  
Dihydropteridine Reductase ◽  
Reductase Deficiency

scholarly journals High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?

JIMD Reports ◽  
2021 ◽  
Author(s):  
Nicola Vitturi ◽  
Livia Lenzini ◽  
Concetta Luisi ◽  
Miryam Carecchio ◽  
Giorgia Gugelmo ◽  
...  
Keyword(s):  
Dihydropteridine Reductase ◽  
Therapy Failure ◽  
Reductase Deficiency

Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Measurement of Oxidized and Reduced Pterins in Urine

PEDIATRICS ◽  
1980 ◽  
Vol 65 (4) ◽  
pp. 806-810
Author(s):  
Sheldon Milstien ◽  
Seymour Kaufman ◽  
George K. Summer
Keyword(s):  
High Performance ◽  
Active Form ◽  
High Performance Liquid Chromatographic ◽  
Dihydropteridine Reductase ◽  
Normal Children ◽  
Reductase Deficiency ◽  
Cultured Skin ◽  
Aromatic Amino Acid Hydroxylase ◽  
Liver Biopsies ◽  
Liquid Chromatographic

Hyperphenylalaninemia due to dihydropteridine reductase deficiency results from the inability to maintain the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in its reduced or active form. Diagnosis of the disease is usually made by direct enzymatic assay on liver biopsies or in cultured skin fibroblasts. Evidence is presented that normal children and classic phenylketonuric children excrete mainly tetrahy-drobiopterin in their urmnes, whereas children with dihydropteridine reductase deficiency excrete only oxidized forms of biopterin. Details of a rapid high performance liquid chromatographic assay for the measurement of the various forms of biopterin in urine are presented. This assay can be used to screen for suspected dihydropteridine reductase mutants.

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