| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
|
Saheki, Takeyori
|
|
2004
|
81 |
S |
p. 20-26
7 p.
|
artikel
|
| 2 |
Ammonia toxicity to the brain and creatine
|
Bachmann, Claude
|
|
2004
|
81 |
S |
p. 52-57
6 p.
|
artikel
|
| 3 |
Arginases I and II: do their functions overlap?
|
Cederbaum, Stephen D
|
|
2004
|
81 |
S |
p. 38-44
7 p.
|
artikel
|
| 4 |
Cognitive outcome in urea cycle disorders
|
Gropman, Andrea L
|
|
2004
|
81 |
S |
p. 58-62
5 p.
|
artikel
|
| 5 |
Developing treatments for inborn errors: incentives available to the clinician
|
Haffner, Marlene E
|
|
2004
|
81 |
S |
p. 63-66
4 p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
2004
|
81 |
S |
p. IFC-
1 p.
|
artikel
|
| 7 |
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients
|
Scaglia, Fernando
|
|
2004
|
81 |
S |
p. 79-85
7 p.
|
artikel
|
| 8 |
Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I
|
Summar, Marshall L
|
|
2004
|
81 |
S |
p. 12-19
8 p.
|
artikel
|
| 9 |
Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism
|
Stanley, Charles A
|
|
2004
|
81 |
S |
p. 45-51
7 p.
|
artikel
|
| 10 |
Lysinuric protein intolerance: mechanisms of pathophysiology
|
Palacı́n, Manuel
|
|
2004
|
81 |
S |
p. 27-37
11 p.
|
artikel
|
| 11 |
Mammalian N-acetylglutamate synthase
|
Morizono, Hiroki
|
|
2004
|
81 |
S |
p. 4-11
8 p.
|
artikel
|
| 12 |
Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and continuous infusion to healthy adult volunteers
|
MacArthur, Robert B
|
|
2004
|
81 |
S |
p. 67-73
7 p.
|
artikel
|
| 13 |
Problems in the management of urea cycle disorders
|
Wilcken, Bridget
|
|
2004
|
81 |
S |
p. 86-91
6 p.
|
artikel
|
| 14 |
Table of contents
|
|
|
2004
|
81 |
S |
p. 1-2
2 p.
|
artikel
|
| 15 |
The role of liver transplantation in urea cycle disorders
|
Leonard, James V
|
|
2004
|
81 |
S |
p. 74-78
5 p.
|
artikel
|
| 16 |
Urea cycle disorders workshop introduction
|
Tuchman, Mendel
|
|
2004
|
81 |
S |
p. 3-
1 p.
|
artikel
|
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