| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population
|
Gruchota, Jakub
|
|
2006
|
87 |
4 |
p. 376-378
3 p.
|
artikel
|
| 2 |
δ-Aminolevulinate dehydratase (ALAD) porphyria: The first case in North America with two novel ALAD mutations
|
Akagi, Reiko
|
|
2006
|
87 |
4 |
p. 329-336
8 p.
|
artikel
|
| 3 |
A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis
|
Awano, Tomoyuki
|
|
2006
|
87 |
4 |
p. 341-348
8 p.
|
artikel
|
| 4 |
Author Index
|
|
|
2006
|
87 |
4 |
p. 380-381
2 p.
|
artikel
|
| 5 |
Disorders of ketone production and utilization
|
|
|
2006
|
87 |
4 |
p. 281-283
3 p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
2006
|
87 |
4 |
p. CO2-
1 p.
|
artikel
|
| 7 |
Expression study of mutant cystathionine β-synthase found in Japanese patients with homocystinuria
|
Katsushima, Fumio
|
|
2006
|
87 |
4 |
p. 323-328
6 p.
|
artikel
|
| 8 |
Hepatic glycogen synthase deficiency: An infrequently recognized cause of ketotic hypoglycemia
|
Weinstein, David A.
|
|
2006
|
87 |
4 |
p. 284-288
5 p.
|
artikel
|
| 9 |
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism
|
Zhang, Jun
|
|
2006
|
87 |
4 |
p. 315-322
8 p.
|
artikel
|
| 10 |
Laminopathies: Multisystem dystrophy syndromes
|
Jacob, Katherine N.
|
|
2006
|
87 |
4 |
p. 289-302
14 p.
|
artikel
|
| 11 |
α-l-Iduronidase transport in neurites
|
Chen, Fengtian
|
|
2006
|
87 |
4 |
p. 349-358
10 p.
|
artikel
|
| 12 |
Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: Implications of molecular diagnosis in Argentina
|
Oller Ramírez, Ana María
|
|
2006
|
87 |
4 |
p. 370-375
6 p.
|
artikel
|
| 13 |
Mutation screening in Chinese hypokalemic periodic paralysis patients
|
Wang, Weiqing
|
|
2006
|
87 |
4 |
p. 359-363
5 p.
|
artikel
|
| 14 |
NO-cGMP signaling in development and stem cells
|
Krumenacker, Joshua S.
|
|
2006
|
87 |
4 |
p. 311-314
4 p.
|
artikel
|
| 15 |
PMM2 intronic branch-site mutations in CDG-Ia
|
Vuillaumier-Barrot, Sandrine
|
|
2006
|
87 |
4 |
p. 337-340
4 p.
|
artikel
|
| 16 |
Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card
|
Nogueira, Célia
|
|
2006
|
87 |
4 |
p. 379-
1 p.
|
artikel
|
| 17 |
Reduced folate carrier polymorphisms and neural tube defect risk
|
O’Leary, Valerie B.
|
|
2006
|
87 |
4 |
p. 364-369
6 p.
|
artikel
|
| 18 |
Serum proteomic signature for cystic fibrosis using an antibody microarray platform
|
Srivastava, Meera
|
|
2006
|
87 |
4 |
p. 303-310
8 p.
|
artikel
|
| 19 |
Table of Contents
|
|
|
2006
|
87 |
4 |
p. i-ii
nvt p.
|
artikel
|
| 20 |
Volume Contents
|
|
|
2006
|
87 |
4 |
p. III-VII
nvt p.
|
artikel
|
Tijdschrift beschrijving