Organic Acidurias
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Published By Springer Netherlands

9789401089753, 9789400956124
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Prolidase Deficiency: Detection of Cases by a Newborn Urinary Screening Programme

1984 ◽  
pp. 145-146
Author(s):  
B. Lemieux ◽  
C. Auray-Blais ◽  
R. Giguere ◽  
D. Shapcott
Keyword(s):  
Screening Programme ◽  
Prolidase Deficiency ◽  
Urinary Screening

L-Glyceric Aciduria (Primary Hyperoxaluria Type 2) in Siblings in Two Unrelated Families

1984 ◽  
pp. 133-134 ◽  
Author(s):  
R. A. Chalmers ◽  
B. M. Tracey ◽  
J. Mistry ◽  
K. D. Griffiths ◽  
A. Green ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency

1984 ◽  
pp. 119-120
Author(s):  
M. Di Rocco ◽  
A. Superti-Furga ◽  
P. Durand ◽  
R. Cerone ◽  
C. Romano ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Organic Acid ◽  
Biotinidase Deficiency

4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. III. Enzymology and Inheritance

1984 ◽  
pp. 95-96
Author(s):  
K. M. Gibson ◽  
I. Jansen ◽  
L. Sweetman ◽  
W. L. Nyhan ◽  
D. Rating ◽  
...  
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism

Pyruvate Carboxylase Deficiency

1984 ◽  
pp. 74-78
Author(s):  
K. Bartlett ◽  
H. K. Ghneim ◽  
J.-H. Stirk ◽  
G. Dale ◽  
K. G. M. M. Alberti
Keyword(s):  
Pyruvate Carboxylase ◽  
Pyruvate Carboxylase Deficiency

Lactic Acidaemia

1984 ◽  
pp. 69-73
Author(s):  
B. H. Robinson ◽  
W. G. Sherwood
Keyword(s):  
Lactic Acidaemia
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