| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database
|
Lam, Christina
|
|
2013
|
110 |
4 |
p. 477-483
7 p.
|
artikel
|
| 2 |
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease
|
Møller, Lisbeth Birk
|
|
2013
|
110 |
4 |
p. 490-492
3 p.
|
artikel
|
| 3 |
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing
|
Yu, Hui
|
|
2013
|
110 |
4 |
p. 465-471
7 p.
|
artikel
|
| 4 |
Dietary management of urea cycle disorders: European practice
|
Adam, S.
|
|
2013
|
110 |
4 |
p. 439-445
7 p.
|
artikel
|
| 5 |
Dietary practices in pyridoxine non-responsive homocystinuria: A European survey
|
Adam, S.
|
|
2013
|
110 |
4 |
p. 454-459
6 p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
2013
|
110 |
4 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio
|
Mokhtarani, M.
|
|
2013
|
110 |
4 |
p. 446-453
8 p.
|
artikel
|
| 8 |
Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes
|
Cleary, Maureen
|
|
2013
|
110 |
4 |
p. 418-423
6 p.
|
artikel
|
| 9 |
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
|
Nogueira, Célia
|
|
2013
|
110 |
4 |
p. 493-494
2 p.
|
artikel
|
| 10 |
[No title]
|
McCabe, Ed
|
|
2013
|
110 |
4 |
p. 417-
1 p.
|
artikel
|
| 11 |
Optimal serum phenylalanine for adult patients with phenylketonuria
|
Okano, Yoshiyuki
|
|
2013
|
110 |
4 |
p. 424-430
7 p.
|
artikel
|
| 12 |
Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up
|
Haarmann, A.
|
|
2013
|
110 |
4 |
p. 472-476
5 p.
|
artikel
|
| 13 |
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
|
Lieu, Michelle T.
|
|
2013
|
110 |
4 |
p. 484-489
6 p.
|
artikel
|
| 14 |
Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan
|
Nagao, Masayoshi
|
|
2013
|
110 |
4 |
p. 460-464
5 p.
|
artikel
|
| 15 |
Table of Contents
|
|
|
2013
|
110 |
4 |
p. iii-iv
nvt p.
|
artikel
|
| 16 |
Treatable inborn errors of metabolism causing neurological symptoms in adults
|
Sirrs, S.M.
|
|
2013
|
110 |
4 |
p. 431-438
8 p.
|
artikel
|
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