Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 232,737,025 papers from all fields of science
Search
Sign In
Create Free Account
deficiency of reductase
Known as:
Reductase Deficiency
A deficiency in an enzyme that promotes reduction of an organic compound.
National Institutes of Health
Create Alert
Alert
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Aldose reductase deficiency protects sugar-induced lens opacification in rats.
A. Reddy
,
R. Tammali
,
Rakesh Mishra
,
S. Srivastava
,
S. Srivastava
,
K. Ramana
Chemico-Biological Interactions
2011
Corpus ID: 206483784
1997
1997
Determination of 3-oxo-delta4- and 3-oxo-delta4,6-bile acids and related compounds in biological fluids of infants with cholestasis by gas chromatography-mass spectrometry.
M. Suzuki
,
T. Murai
,
T. Yoshimura
,
A. Kimura
,
T. Kurosawa
,
M. Tohma
Journal of Chromatography B: Biomedical Sciences…
1997
Corpus ID: 29107405
1987
1987
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
H. Dahl
,
W. Hutchison
,
W. Mcadam
,
S. Wake
,
F. Morgan
,
R. Cotton
Nucleic Acids Research
1987
Corpus ID: 20750343
Deficiency of human dihydropteridine reductase (hDHPR) causes malignant hyperphenylalaninemia. We report the isolation of a cDNA…
Expand
1987
1987
Pathological findings in 5,10-methylene tetrahydrofolate reductase deficiency.
D. R. Beckman
,
G. Hoganson
,
S. Berlow
,
E. Gilbert
Birth defects original article series
1987
Corpus ID: 6056317
1984
1984
Dihydropteridine reductase deficiency: Non-response to oral tetrahydrobiopterin load test
A. Lipson
,
John Yu
,
M. O'Halloran
,
M. Potter
,
B. Wilken
Journal of Inherited Metabolic Disease
1984
Corpus ID: 1697733
In a child with dihydropteridine reductase deficiency (McKusick 26163) none of four separate oral tetrahydrobiopterin loading…
Expand
1981
1981
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.
J. Harpey
,
D. Rosenblatt
,
+4 authors
Jacques Lafourcade
Jornal de Pediatria
1981
Corpus ID: 28561454
1979
1979
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.
T. Brewster
,
M. Moskowitz
,
S. Kaufman
,
J. Breslow
,
S. Milstien
,
I. Abroms
Pediatrics
1979
Corpus ID: 5633392
A deficiency of hepatic dihydropteridine reductase (DHPR) activity was found in a neurologically impaired infant with mild…
Expand
1978
1978
5alpha-reductase activity of genital and nongenital skin fibroblasts from patients with 5alpha-reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism.
Leonard Pinsky
,
Leonard Pinsky
,
+8 authors
J. M. Opitz
American journal of medical genetics
1978
Corpus ID: 40062066
Serially subcultured fibroblast strains from genital (foreskin, labium majus) skin, as a group, have considerably more steroid…
Expand
Highly Cited
1977
Highly Cited
1977
Methylenetetrahydrofolate Reductase in Cultured Human Cells. II. Genetic and Biochemical Studies of Methylenetetrahydrofolate Reductase Deficiency
D. Rosenblatt
,
R. Erbe
Pediatric Research
1977
Corpus ID: 24040041
Summary: Methylenetetrahydrofolate (methylene-H4PteGlu) reductase activities in extracts of both normal and reductase-deficient…
Expand
Highly Cited
1962
Highly Cited
1962
A new enzymopenic hemolytic anemia with glutathione reductase deficiency
Loehr Gw
,
Waller Hd
1962
Corpus ID: 77570923
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE
or Only Accept Required