Inborn Errors of Metabolism in Man - Monographs in Human Genetics
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9783805528368, 9783318040012
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Three Variants of Glucose-Phosphate Isomerase Deficiency

2015 ◽  
pp. 25-28
Author(s):  
G. E. J. Staal ◽  
J. Van Biervliet ◽  
A. M. C. Vlug ◽  
J. W. N. Akkerman
Keyword(s):  
Glucose Phosphate Isomerase ◽  
Glucose Phosphate

SV40 Virus Transformation of Genetic Mutant Cell Cultures1

2015 ◽  
pp. 248-252
Author(s):  
Arthur E. Greene ◽  
Marion Manduka ◽  
Lewis L. Coriell
Keyword(s):  
Mutant Cell ◽  
Sv40 Virus ◽  
Virus Transformation

Programs of the Human Genetic Mutant Cell Repository1

2015 ◽  
pp. 233-238 ◽  
Author(s):  
Arthur E. Greene
Keyword(s):  
Mutant Cell

Ocular Findings in Acid Lipase Deficiency1

2015 ◽  
pp. 193-197
Author(s):  
Amir Arbisser ◽  
Lisa Brothers Arbisser ◽  
Charles A. Garcia ◽  
Mohammed Akhtar ◽  
Charleen Morizot Moore ◽  
...  
Keyword(s):  
Acid Lipase ◽  
Ocular Findings

Phenylketonuria (PKU) in Israel

2015 ◽  
pp. 95-101 ◽  
Author(s):  
B. E. Cohen ◽  
A. Szeinberg ◽  
Y. Levine ◽  
I. Peled ◽  
S. Pollack ◽  
...  

Maple Syrup Urine Disease: Emergency Treatment of the Neonate

2015 ◽  
pp. 84-89 ◽  
Author(s):  
G. Hammersen ◽  
L. Wille ◽  
H. Schmidt ◽  
P. Lutz ◽  
H. Bickel
Keyword(s):  
Maple Syrup Urine Disease ◽  
Emergency Treatment ◽  
Maple Syrup ◽  
Urine Disease

In vivo Determination of Phenylalanine Hydroxylase Activity Using Heptadeutero-Phenylalanine and Comparison to the in vitro Assay Values1

2015 ◽  
pp. 108-113 ◽  
Author(s):  
Friedrich K. Trefz ◽  
Klaus Bartholom� ◽  
Horst Bickel ◽  
Peter Lutz ◽  
Hildgund Schmidt
Keyword(s):  
Phenylalanine Hydroxylase ◽  
In Vitro Assay ◽  
Hydroxylase Activity ◽  
Vitro Assay
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