| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abstract Index
|
|
|
2011
|
102 |
3 |
p. 383-387
5 p.
|
artikel
|
| 2 |
Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants
|
Adamsen, Dea
|
|
2011
|
102 |
3 |
p. 368-373
6 p.
|
artikel
|
| 3 |
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1
|
Mushimoto, Yuichi
|
|
2011
|
102 |
3 |
p. 343-348
6 p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
2011
|
102 |
3 |
p. IFC-
1 p.
|
artikel
|
| 5 |
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening
|
Wamelink, M.M.C.
|
|
2011
|
102 |
3 |
p. 339-342
4 p.
|
artikel
|
| 6 |
Identification of the first COG–CDG patient of Indian origin
|
Ng, Bobby G.
|
|
2011
|
102 |
3 |
p. 364-367
4 p.
|
artikel
|
| 7 |
Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome
|
Infantino, Vittoria
|
|
2011
|
102 |
3 |
p. 378-382
5 p.
|
artikel
|
| 8 |
Induction of PDK4 in the heart muscle of JVS mice, an animal model of systemic carnitine deficiency, does not appear to reduce glucose utilization by the heart
|
Ushikai, Miharu
|
|
2011
|
102 |
3 |
p. 349-355
7 p.
|
artikel
|
| 9 |
Message from the President of the Society for Inherited Metabolic Disorders
|
Vladutiu, Georgirene D.
|
|
2011
|
102 |
3 |
p. 325-
1 p.
|
artikel
|
| 10 |
Over-expression of NYGGF4 (PID1) inhibits glucose transport in skeletal myotubes by blocking the IRS1/PI3K/AKT insulin pathway
|
Wu, W.L.
|
|
2011
|
102 |
3 |
p. 374-377
4 p.
|
artikel
|
| 11 |
Program for SIMD Annual Meeting February 27–March 2, 2011 Asilomar Conference Center, Pacific Grove, CA
|
|
|
2011
|
102 |
3 |
p. 237-324
88 p.
|
artikel
|
| 12 |
Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs
|
Osher, Etty
|
|
2011
|
102 |
3 |
p. 356-363
8 p.
|
artikel
|
| 13 |
Research challenges in central nervous system manifestations of inborn errors of metabolism
|
Dickson, P.I.
|
|
2011
|
102 |
3 |
p. 326-338
13 p.
|
artikel
|
| 14 |
Table of Contents
|
|
|
2011
|
102 |
3 |
p. iii-iv
nvt p.
|
artikel
|
Tijdschrift beschrijving