scholarly journals Familial angiokeratoma corporis diffusum without identified enzyme defect

2015 ◽  
Vol 81 (1) ◽  
pp. 46 ◽  
Author(s):  
Chieh-Hsin Wu ◽  
Ying-Yi Lu ◽  
Chun-Ching Lu ◽  
Chieh-Shan Wu
Keyword(s):  
Enzyme Defect

scholarly journals The enzyme defect in bovine protoporphyria. Studies with purified ferrochelatase.

1987 ◽  
Vol 262 (2) ◽  
pp. 667-671
Author(s):  
J R Bloomer ◽  
H D Hill ◽  
K O Morton ◽  
L A Anderson-Burnham ◽  
J G Straka
Keyword(s):  
Enzyme Defect

scholarly journals β-Galactosidase in Tissue Culture Derived from Human Skin and Bone Marrow: Enzyme defect in GM1 Gangliosidosis

1969 ◽  
Vol 3 (6) ◽  
pp. 532-537 ◽  
Author(s):  
Howard R Sloan ◽  
B William Uhlendorf ◽  
Cecil B Jacobson ◽  
Donald S Fredrickson
Keyword(s):  
Bone Marrow ◽  
Tissue Culture ◽  
Human Skin ◽  
Enzyme Defect ◽  
Gm1 Gangliosidosis

scholarly journals A specific enzyme defect in gout associated with overproduction of uric acid.

1967 ◽  
Vol 57 (6) ◽  
pp. 1735-1739 ◽  
Author(s):  
W. N. Kelley ◽  
F. M. Rosenbloom ◽  
J. F. Henderson ◽  
J. E. Seegmiller
Keyword(s):  
Uric Acid ◽  
Specific Enzyme ◽  
Enzyme Defect

DEVELOPMENTAL RETARDATION ASSOCIATED WITH AN ABNORMALITY IN TYROSINE METABOLISM

PEDIATRICS ◽  
1961 ◽  
Vol 28 (3) ◽  
pp. 399-409
Author(s):  
John H. Menkes ◽  
George A. Jervis
Keyword(s):  
Weight Gain ◽  
Clinical Improvement ◽  
Urinary Metabolites ◽  
Enzyme Defect ◽  
Developmental Retardation ◽  
Fetal Tissues ◽  
Tyrosine Metabolism ◽  
Hydroxyphenylacetic Acid

An infant with seizures, spasticity, and failure in weight gain was shown to excrete p-hydroxyphenylpyruvic acid, p-hydroxyphenyllactic acid, and p-hydroxyphenylacetic acid, indicating the likelihood of an impairment in the oxidation of p-hydroxyphenylpyruvate. Institution of a phenylalanine-free diet coincided with marked clinical improvement and disappearance of the abnormal urinary metabolites. The cause of the temporary enzyme defect is discussed, and it is concluded that it represents a persistence into extrauterine life of the relative enzyme inactivity observed in fetal tissues.

Enzyme defect in saccharopinuria

1973 ◽  
Vol 82 (1) ◽  
pp. 54-57 ◽  
Author(s):  
O. Simell ◽  
T. Johansson ◽  
P. Aula
Keyword(s):  
Enzyme Defect

An Enzyme Defect in Metabolic Gout

1968 ◽  
Vol 68 (3) ◽  
pp. 707 ◽  
Author(s):  
BRYAN T. EMMERSON
Keyword(s):  
Enzyme Defect

Enzyme Defect in a Case of Xanthinuria

Nature ◽  
1964 ◽  
Vol 201 (4917) ◽  
pp. 395-396 ◽  
Author(s):  
RICHARD W. E. WATTS ◽  
KARL ENGELMAN ◽  
JAMES R. KLINENBERG ◽  
J. EDWIN SEEGMILLER ◽  
ALBERT SJOERDSMA
Keyword(s):  
Enzyme Defect

Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect

2005 ◽  
Vol 86 (4) ◽  
pp. 448-455 ◽  
Author(s):  
Phyllis B. Acosta ◽  
Steven Yannicelli ◽  
Alan S. Ryan ◽  
Georgianne Arnold ◽  
Barbara J. Marriage ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Nutritional Therapy ◽  
Enzyme Defect ◽  
Cycle Enzyme ◽  
Protein Status ◽  
Urea Cycle Enzyme
Sign in / Sign up

Export Citation Format

Share Document