| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Editorial Board
|
|
|
2013
|
108 |
3 |
p. IFC-
1 p.
|
artikel
|
| 2 |
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings
|
Tajima, Go
|
|
2013
|
108 |
3 |
p. 172-177
6 p.
|
artikel
|
| 3 |
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings
|
Prasad, Chitra
|
|
2013
|
108 |
3 |
p. 190-194
5 p.
|
artikel
|
| 4 |
Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: Cellular models of de novo purine biosynthesis deficiency disorders
|
Duval, Nathan
|
|
2013
|
108 |
3 |
p. 178-189
12 p.
|
artikel
|
| 5 |
Histopathological findings in livers of patients with urea cycle disorders
|
Yaplito-Lee, Joy
|
|
2013
|
108 |
3 |
p. 161-165
5 p.
|
artikel
|
| 6 |
Liver cirrhosis in glycogen storage disease Ib
|
Baertling, Fabian
|
|
2013
|
108 |
3 |
p. 198-200
3 p.
|
artikel
|
| 7 |
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and familial Mediterranean fever (Fmf): New insight into heritable periodic fevers
|
Simon, Anna
|
|
2013
|
108 |
3 |
p. 166-171
6 p.
|
artikel
|
| 8 |
Maple syrup urine disease: Membrane amino acid transport in non-brain tissues revisited
|
de Céspedes, Carlos
|
|
2013
|
108 |
3 |
p. 201-202
2 p.
|
artikel
|
| 9 |
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia
|
Opladen, Thomas
|
|
2013
|
108 |
3 |
p. 195-197
3 p.
|
artikel
|
| 10 |
Psychiatric symptoms in adults with phenylketonuria
|
Bilder, Deborah A.
|
|
2013
|
108 |
3 |
p. 155-160
6 p.
|
artikel
|
| 11 |
Risk factors for developing mineral bone disease in phenylketonuric patients
|
Mirás, Alicia
|
|
2013
|
108 |
3 |
p. 149-154
6 p.
|
artikel
|
| 12 |
Table of Contents
|
|
|
2013
|
108 |
3 |
p. iii-
1 p.
|
artikel
|
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