Inherited Disorders of Vitamins and Cofactors
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Published By Springer Netherlands

9789401180214, 9789401180191
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Prenatal Diagnosis of the Cerebro-hepato-renal (Zellweger) Syndrome by Detection of an Impaired Plasmalogen Biosynthesis

1985 ◽  
pp. 153-154
Author(s):  
R. B. H. Schutgens ◽  
H. S. A. Heymans ◽  
R. J. A. Wanders ◽  
H. van den Bosch ◽  
G. Schrakamp
Keyword(s):  
Prenatal Diagnosis ◽  
Zellweger Syndrome

3-Methyladipate Excretion in Animals Fed a Phytol Supplement with Reference to Refsum’s Disease

1985 ◽  
pp. 147-148
Author(s):  
S. Krywawych ◽  
D. P. Brenton ◽  
M. J. Jackson ◽  
C. Forte ◽  
D. K. Walker ◽  
...  
Keyword(s):  
Refsum's Disease

Early Diagnosis and Dietetic Management in Newborn with Maple Syrup Urine Disease. Birth to Six Weeks

1985 ◽  
pp. 131-132
Author(s):  
E. R. Naughten ◽  
I. P. Saul ◽  
G. Roche ◽  
C. Mullins
Keyword(s):  
Early Diagnosis ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease

Folic Acid Responsive Rages, Seizures and Homocystinuria

1985 ◽  
pp. 109-110
Author(s):  
J. V. Murphy ◽  
L. M. Thome ◽  
K. Michals ◽  
R. Matalon
Keyword(s):  
Folic Acid

Successful Nicotinamide Treatment in an Autosomal Dominant Behavioral and Psychiatric Disorder

1985 ◽  
pp. 107-108
Author(s):  
W. Blom ◽  
G. B. van den Berg ◽  
J. G. M. Huijmans ◽  
J. A. R. Sanders-Woudstra
Keyword(s):  
Psychiatric Disorder ◽  
Autosomal Dominant ◽  
Nicotinamide Treatment

Plasma Selenium Levels in Treated Phenylketonuric Patients

1985 ◽  
pp. 127-128
Author(s):  
A. Rottoli ◽  
G. Lista ◽  
G. Zecchini ◽  
C. Butté ◽  
R. Longhi
Keyword(s):  
Plasma Selenium

Metabolic Effects of Carnitine Medication in a Patient with Multiple Acyl-CoA Dehydrogenation Deficiency

1985 ◽  
pp. 139-140 ◽  
Author(s):  
N. Gregersen ◽  
M. Fjord Christensen ◽  
S. Kølvraa
Keyword(s):  
Metabolic Effects

The Diagnosis and Biochemical Investigation of a Patient with a Short Chain Fatty Acid Oxidation Defect

1985 ◽  
pp. 135-136
Author(s):  
M. J. Bennett ◽  
R. G. F. Gray ◽  
D. M. Isherwood ◽  
N. Murphy ◽  
R. J. Pollitt
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Short Chain Fatty Acid ◽  
Chain Fatty Acid ◽  
Short Chain ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Defect ◽  
Biochemical Investigation
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